Erratum: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011))

Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E.C. Mellgren, Sabine Leh, Albane Bizet, Daniela A. Braun, Heon Y. Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi HauglandDamien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah

Research output: Contribution to journalComment/debate

4 Citations (Scopus)

Abstract

(The American Journal of Human Genetics 100, 323–333; February 2, 2017) In the version of this paper published online on January 12, there were three errors. First, on page 2, the mutation in NPH2139-22 is described as “…(c.1318C>T [p.Arg544Gln]) never reported in ExAC database…” but in Table 1 (row 4, column 3), the mutation is designated c.1631G>A. The nomenclature c.1631G>A (in Table 1) is correct. Second, on page 3, the text says “…in-frame deletion of 39 amino acids (aa 396 to 435)…” but in Table 1 and Figure 1, the range is given as p.396_445del. Again, the nomenclature in Table 1 and Figure 1 is correct and the text on page 3 should have been “…in-frame deletion of 49 amino acids (aa 396 to 445)…” Third, in Table 1, the fifth column entries for rows 1 and 2 should both read “7, 32 Het.” All three of these errors have been corrected in the version of the paper printed and currently online. The authors apologize for these errors.

Original languageEnglish
Number of pages1
JournalAmerican Journal of Human Genetics
Volume100
Issue number2
DOIs
Publication statusPublished - 2017 Feb 2

Fingerprint

Cilia
Medical Genetics
Terminology
Amino Acids
Mutation
Databases

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Macia, Maxence S. ; Halbritter, Jan ; Delous, Marion ; Bredrup, Cecilie ; Gutter, Arthur ; Filhol, Emilie ; Mellgren, Anne E.C. ; Leh, Sabine ; Bizet, Albane ; Braun, Daniela A. ; Gee, Heon Y. ; Silbermann, Flora ; Henry, Charline ; Krug, Pauline ; Bole-Feysot, Christine ; Nitschké, Patrick ; Joly, Dominique ; Nicoud, Philippe ; Paget, André ; Haugland, Heidi ; Brackmann, Damien ; Ahmet, Nayir ; Sandford, Richard ; Cengiz, Nurcan ; Knappskog, Per M. ; Boman, Helge ; Linghu, Bolan ; Yang, Fan ; Oakeley, Edward J. ; Saint Mézard, Pierre ; Sailer, Andreas W. ; Johansson, Stefan ; Rødahl, Eyvind ; Saunier, Sophie ; Hildebrandt, Friedhelm ; Benmerah, Alexandre. / Erratum : Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011)). In: American Journal of Human Genetics. 2017 ; Vol. 100, No. 2.
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title = "Erratum: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011))",
abstract = "(The American Journal of Human Genetics 100, 323–333; February 2, 2017) In the version of this paper published online on January 12, there were three errors. First, on page 2, the mutation in NPH2139-22 is described as “…(c.1318C>T [p.Arg544Gln]) never reported in ExAC database…” but in Table 1 (row 4, column 3), the mutation is designated c.1631G>A. The nomenclature c.1631G>A (in Table 1) is correct. Second, on page 3, the text says “…in-frame deletion of 39 amino acids (aa 396 to 435)…” but in Table 1 and Figure 1, the range is given as p.396_445del. Again, the nomenclature in Table 1 and Figure 1 is correct and the text on page 3 should have been “…in-frame deletion of 49 amino acids (aa 396 to 445)…” Third, in Table 1, the fifth column entries for rows 1 and 2 should both read “7, 32 Het.” All three of these errors have been corrected in the version of the paper printed and currently online. The authors apologize for these errors.",
author = "Macia, {Maxence S.} and Jan Halbritter and Marion Delous and Cecilie Bredrup and Arthur Gutter and Emilie Filhol and Mellgren, {Anne E.C.} and Sabine Leh and Albane Bizet and Braun, {Daniela A.} and Gee, {Heon Y.} and Flora Silbermann and Charline Henry and Pauline Krug and Christine Bole-Feysot and Patrick Nitschk{\'e} and Dominique Joly and Philippe Nicoud and Andr{\'e} Paget and Heidi Haugland and Damien Brackmann and Nayir Ahmet and Richard Sandford and Nurcan Cengiz and Knappskog, {Per M.} and Helge Boman and Bolan Linghu and Fan Yang and Oakeley, {Edward J.} and {Saint M{\'e}zard}, Pierre and Sailer, {Andreas W.} and Stefan Johansson and Eyvind R{\o}dahl and Sophie Saunier and Friedhelm Hildebrandt and Alexandre Benmerah",
year = "2017",
month = "2",
day = "2",
doi = "10.1016/j.ajhg.2017.01.025",
language = "English",
volume = "100",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",

}

Macia, MS, Halbritter, J, Delous, M, Bredrup, C, Gutter, A, Filhol, E, Mellgren, AEC, Leh, S, Bizet, A, Braun, DA, Gee, HY, Silbermann, F, Henry, C, Krug, P, Bole-Feysot, C, Nitschké, P, Joly, D, Nicoud, P, Paget, A, Haugland, H, Brackmann, D, Ahmet, N, Sandford, R, Cengiz, N, Knappskog, PM, Boman, H, Linghu, B, Yang, F, Oakeley, EJ, Saint Mézard, P, Sailer, AW, Johansson, S, Rødahl, E, Saunier, S, Hildebrandt, F & Benmerah, A 2017, 'Erratum: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011))', American Journal of Human Genetics, vol. 100, no. 2. https://doi.org/10.1016/j.ajhg.2017.01.025

Erratum : Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011)). / Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Mellgren, Anne E.C.; Leh, Sabine; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackmann, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per M.; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre.

In: American Journal of Human Genetics, Vol. 100, No. 2, 02.02.2017.

Research output: Contribution to journalComment/debate

TY - JOUR

T1 - Erratum

T2 - Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011))

AU - Macia, Maxence S.

AU - Halbritter, Jan

AU - Delous, Marion

AU - Bredrup, Cecilie

AU - Gutter, Arthur

AU - Filhol, Emilie

AU - Mellgren, Anne E.C.

AU - Leh, Sabine

AU - Bizet, Albane

AU - Braun, Daniela A.

AU - Gee, Heon Y.

AU - Silbermann, Flora

AU - Henry, Charline

AU - Krug, Pauline

AU - Bole-Feysot, Christine

AU - Nitschké, Patrick

AU - Joly, Dominique

AU - Nicoud, Philippe

AU - Paget, André

AU - Haugland, Heidi

AU - Brackmann, Damien

AU - Ahmet, Nayir

AU - Sandford, Richard

AU - Cengiz, Nurcan

AU - Knappskog, Per M.

AU - Boman, Helge

AU - Linghu, Bolan

AU - Yang, Fan

AU - Oakeley, Edward J.

AU - Saint Mézard, Pierre

AU - Sailer, Andreas W.

AU - Johansson, Stefan

AU - Rødahl, Eyvind

AU - Saunier, Sophie

AU - Hildebrandt, Friedhelm

AU - Benmerah, Alexandre

PY - 2017/2/2

Y1 - 2017/2/2

N2 - (The American Journal of Human Genetics 100, 323–333; February 2, 2017) In the version of this paper published online on January 12, there were three errors. First, on page 2, the mutation in NPH2139-22 is described as “…(c.1318C>T [p.Arg544Gln]) never reported in ExAC database…” but in Table 1 (row 4, column 3), the mutation is designated c.1631G>A. The nomenclature c.1631G>A (in Table 1) is correct. Second, on page 3, the text says “…in-frame deletion of 39 amino acids (aa 396 to 435)…” but in Table 1 and Figure 1, the range is given as p.396_445del. Again, the nomenclature in Table 1 and Figure 1 is correct and the text on page 3 should have been “…in-frame deletion of 49 amino acids (aa 396 to 445)…” Third, in Table 1, the fifth column entries for rows 1 and 2 should both read “7, 32 Het.” All three of these errors have been corrected in the version of the paper printed and currently online. The authors apologize for these errors.

AB - (The American Journal of Human Genetics 100, 323–333; February 2, 2017) In the version of this paper published online on January 12, there were three errors. First, on page 2, the mutation in NPH2139-22 is described as “…(c.1318C>T [p.Arg544Gln]) never reported in ExAC database…” but in Table 1 (row 4, column 3), the mutation is designated c.1631G>A. The nomenclature c.1631G>A (in Table 1) is correct. Second, on page 3, the text says “…in-frame deletion of 39 amino acids (aa 396 to 435)…” but in Table 1 and Figure 1, the range is given as p.396_445del. Again, the nomenclature in Table 1 and Figure 1 is correct and the text on page 3 should have been “…in-frame deletion of 49 amino acids (aa 396 to 445)…” Third, in Table 1, the fifth column entries for rows 1 and 2 should both read “7, 32 Het.” All three of these errors have been corrected in the version of the paper printed and currently online. The authors apologize for these errors.

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UR - http://www.scopus.com/inward/citedby.url?scp=85011818964&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2017.01.025

DO - 10.1016/j.ajhg.2017.01.025

M3 - Comment/debate

C2 - 28157543

AN - SCOPUS:85011818964

VL - 100

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -