ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's‐eye maculopathy

AIM: To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's‐eye maculopathy (BEM). METHODS: A panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM, not attributable to toxic causes, was ascerta...

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Detalhes bibliográficos
Main Authors: Michaelides, M, Chen, L L, Brantley, M A, Andorf, J L, Isaak, E M, Jenkins, S A, Holder, G E, Bird, A C, Stone, E M, Webster, A R
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Extended Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2095527/
https://ncbi.nlm.nih.gov/pubmed/18024811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2007.118356
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