Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy

Min Wook Kim, Dae Hyun Jang, Jun Kang, Seungok Lee, Sun Young Joo, Ja Hyun Jang, Eun Hae Cho, Young Chul Choi, Jung Hwan Lee

Research output: Contribution to journalLetter

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)359-361
Number of pages3
JournalAnnals of laboratory medicine
Volume37
Issue number4
DOIs
Publication statusPublished - 2017 Jul

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High-Throughput Nucleotide Sequencing
Muscular Dystrophies
Laminin
Preschool Children
DNA Sequence Analysis
Single Nucleotide Polymorphism
Skeletal Muscle
Magnetic Resonance Imaging
Mutation
Brain

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Kim, M. W., Jang, D. H., Kang, J., Lee, S., Joo, S. Y., Jang, J. H., ... Lee, J. H. (2017). Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy. Annals of laboratory medicine, 37(4), 359-361. https://doi.org/10.3343/alm.2017.37.4.359
Kim, Min Wook ; Jang, Dae Hyun ; Kang, Jun ; Lee, Seungok ; Joo, Sun Young ; Jang, Ja Hyun ; Cho, Eun Hae ; Choi, Young Chul ; Lee, Jung Hwan. / Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy. In: Annals of laboratory medicine. 2017 ; Vol. 37, No. 4. pp. 359-361.
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title = "Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy",
author = "Kim, {Min Wook} and Jang, {Dae Hyun} and Jun Kang and Seungok Lee and Joo, {Sun Young} and Jang, {Ja Hyun} and Cho, {Eun Hae} and Choi, {Young Chul} and Lee, {Jung Hwan}",
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Kim, MW, Jang, DH, Kang, J, Lee, S, Joo, SY, Jang, JH, Cho, EH, Choi, YC & Lee, JH 2017, 'Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy', Annals of laboratory medicine, vol. 37, no. 4, pp. 359-361. https://doi.org/10.3343/alm.2017.37.4.359

Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy. / Kim, Min Wook; Jang, Dae Hyun; Kang, Jun; Lee, Seungok; Joo, Sun Young; Jang, Ja Hyun; Cho, Eun Hae; Choi, Young Chul; Lee, Jung Hwan.

In: Annals of laboratory medicine, Vol. 37, No. 4, 07.2017, p. 359-361.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Novel mutation (c.8725T>C) in two siblings with late-onset LAMA2-related muscular dystrophy

AU - Kim, Min Wook

AU - Jang, Dae Hyun

AU - Kang, Jun

AU - Lee, Seungok

AU - Joo, Sun Young

AU - Jang, Ja Hyun

AU - Cho, Eun Hae

AU - Choi, Young Chul

AU - Lee, Jung Hwan

PY - 2017/7

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DO - 10.3343/alm.2017.37.4.359

M3 - Letter

C2 - 28445022

AN - SCOPUS:85018760601

VL - 37

SP - 359

EP - 361

JO - Annals of Laboratory Medicine

JF - Annals of Laboratory Medicine

SN - 2234-3806

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ER -