Lebersche kongenitale Amaurose 16 ist eine autosomal rezessive Erkrankung, die auf Mutationen des KCNJ13-Gens beruht.
1. |
Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. |
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Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations. |
3. |
Pattnaik BR et al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). |
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OMIM.ORG article Omim 614186 |