Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

Aim: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. Methods: 11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was...

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Main Authors: Allen, L E, Zito, I, Bradshaw, K, Patel, R J, Bird, A C, Fitzke, F, Yates, J R, Trump, D, Hardcastle, A J, Moore, A T
Format: Artigo
Jezik:Inglês
Izdano: Copyright 2003 British Journal of Ophthalmology 2003
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Perspective
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771890/
https://ncbi.nlm.nih.gov/pubmed/14609846
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