A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sungchul Lee, Oh Woong Kwon

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

Original languageEnglish
Pages (from-to)62-64
Number of pages3
JournalKorean journal of ophthalmology : KJO
Volume20
Issue number1
DOIs
Publication statusPublished - 2006 Jan 1

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Retinoschisis
Missense Mutation
Mutation
Genes
Exons
Observation
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Koh, Hyoung Jun ; Jwa, Nam Soo ; Kim, Sung Soo ; Lee, Sungchul ; Kwon, Oh Woong. / A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. In: Korean journal of ophthalmology : KJO. 2006 ; Vol. 20, No. 1. pp. 62-64.
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A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. / Koh, Hyoung Jun; Jwa, Nam Soo; Kim, Sung Soo; Lee, Sungchul; Kwon, Oh Woong.

In: Korean journal of ophthalmology : KJO, Vol. 20, No. 1, 01.01.2006, p. 62-64.

Research output: Contribution to journalArticle

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