Two Japanese patients with mutations in the XLRS1 gene

Demidmaa Tuvdendorj; Yasushi Isashiki; Norio Ohba; Shozo Sonoda; Shuji Izumo

doi:10.1097/00006982-200206000-00017

Two Japanese patients with mutations in the XLRS1 gene

Demidmaa Tuvdendorj, Yasushi Isashiki, Norio Ohba, Shozo Sonoda, Shuji Izumo

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Novel and missense mutations (N179D, E72K) of the XLRS1 gene contributed to the definite diagnosis of X-linked congenital retinoschisis.

Original language	English (US)
Pages (from-to)	354-357
Number of pages	4
Journal	Retina
Volume	22
Issue number	3
DOIs	https://doi.org/10.1097/00006982-200206000-00017
State	Published - Jun 2002
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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10.1097/00006982-200206000-00017

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title = "Two Japanese patients with mutations in the XLRS1 gene",

abstract = "Novel and missense mutations (N179D, E72K) of the XLRS1 gene contributed to the definite diagnosis of X-linked congenital retinoschisis.",

author = "Demidmaa Tuvdendorj and Yasushi Isashiki and Norio Ohba and Shozo Sonoda and Shuji Izumo",

year = "2002",

month = jun,

doi = "10.1097/00006982-200206000-00017",

language = "English (US)",

volume = "22",

pages = "354--357",

journal = "Retina",

issn = "0275-004X",

publisher = "Lippincott Williams and Wilkins",

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TY - JOUR

T1 - Two Japanese patients with mutations in the XLRS1 gene

AU - Tuvdendorj, Demidmaa

AU - Isashiki, Yasushi

AU - Ohba, Norio

AU - Sonoda, Shozo

AU - Izumo, Shuji

PY - 2002/6

Y1 - 2002/6

N2 - Novel and missense mutations (N179D, E72K) of the XLRS1 gene contributed to the definite diagnosis of X-linked congenital retinoschisis.

AB - Novel and missense mutations (N179D, E72K) of the XLRS1 gene contributed to the definite diagnosis of X-linked congenital retinoschisis.

UR - https://www.scopus.com/pages/publications/0036627396

UR - https://www.scopus.com/inward/citedby.url?scp=0036627396&partnerID=8YFLogxK

U2 - 10.1097/00006982-200206000-00017

DO - 10.1097/00006982-200206000-00017

M3 - Article

C2 - 12055472

AN - SCOPUS:0036627396

SN - 0275-004X

VL - 22

SP - 354

EP - 357

JO - Retina

JF - Retina

IS - 3

ER -

Two Japanese patients with mutations in the XLRS1 gene

Abstract

ASJC Scopus subject areas

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