Congenital Stationary Night Blindness: Mutation Update and Clinical Variability
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-0631-0_48.pdf
Reference28 articles.
1. Allen L E Zito I Bradshaw K et al (2003) Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. Br J Ophthalmol 87:1413–1420
2. Audo I Kohl S Leroy B P et al (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics 85:720–729
3. Bech-Hansen N T Boycott K M Gratton K J et al (1998a) Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet 103:124–130
4. Bech-Hansen N T Naylor M J Maybaum T A et al (1998b) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 19:264–267
5. Bech-Hansen N T Naylor M J Maybaum T A et al (2000) Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 26:319–323
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