Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2-Reference-Cited by-同舟云学术

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2

Published:2005-04 Issue:2 Volume:33 Page:129-136
ISSN:1442-6404
Container-title:Clinical and Experimental Ophthalmology
language:en
Short-container-title:Clin Exp Ophthalmol

Author:

Hope Carolyn I,Sharp Dianne M,Hemara-Wahanui Ariana,Sissingh Jennifer I,Lundon Patricia,Mitchell Ed A,Maw Marion A,Clover Gillian M

Publisher

Wiley

Subject

Ophthalmology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-9071.2005.00987.x/fullpdf

Reference23 articles.

1. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

2. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

3. Congenital Stationary Night Blindness

4. Congenital Stationary Night Blindness With Negative Electroretinogram

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