ABCA4 p.Ile1615Val

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PMID: 15671300 [PubMed] Umeda S et al: "Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci."
No. Sentence Comment
106 In addition, the mutation analysis revealed heterozygous amino acid changes at five positions-Leu424Val, Arg1017His, Val1114Ile, Ile1615Val, and Pro2238Gln-in both affected and normal monkeys.
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ABCA4 p.Ile1615Val 15671300:106:129
status: NEW
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