Mutations in the CACNA1F and NYX genes in British CSNBX families

X‐linked congenital stationary night blindness (CSNBX) is a genetically and phenotypically heterogeneous non‐progressive disorder, characterised by impaired night vision but grossly normal retinal appearance. Other more variable features include reduction in visual acuity, myopia, nystagmus and stra...

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Veröffentlicht in:	Human mutation 2003-02, Vol.21 (2), p.169-169
Hauptverfasser:	Zito, Ilaria, Allen, Louise E., Patel, Reshma J., Meindl, Alfons, Bradshaw, Keith, Yates, John R., Bird, Alan C., Erskine, Lynda, Cheetham, Michael E., Webster, Andrew R., Poopalasundaram, Subathra, Moore, Anthony T., Trump, Dorothy, Hardcastle, Alison J.
Format:	Artikel
Sprache:	eng
Schlagworte:	CACNA1F Calcium Channels - genetics Calcium Channels, L-Type DNA Mutational Analysis Exons - genetics Female Founder Effect Genetic Diseases, X-Linked - genetics Humans Leukocytes - chemistry Male Mutation - genetics Night Blindness - congenital Night Blindness - genetics NYX Pedigree Proteoglycans - genetics United Kingdom X-linked congenital stationary night blindness
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