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Case Reports
. 2002 Oct;134(4):622-4.
doi: 10.1016/s0002-9394(02)01592-1.

Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis

Yumiko Inoue  1 , Shuji Yamamoto, Tomoyuki Inoue, Takashi Fujikado, Shunji Kusaka, Nobuyuki Ohguro, Masahito Ohji, Yasuo Tano
Affiliations
Case Reports

Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis

Yumiko Inoue et al. Am J Ophthalmol. 2002 Oct.

Abstract

Purpose: To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.

Design: Observational case reports.

Methods: The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing.

Results: One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.

Conclusions: Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.

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