Analysis of the ABCA4 genomic locus in Stargardt disease

Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65–70% of patients and only one mutation in 15–20% of patients. This study wa...

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Publicado no:Hum Mol Genet
Main Authors: Zernant, Jana, Xie, Yajing (Angela), Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B., Strom, Samuel P., Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M., Yuan, Bo, Ayyagari, Radha, Nagy, Peter L., Tsang, Stephen H., Gouras, Peter, Collison, Frederick T., Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245042/
https://ncbi.nlm.nih.gov/pubmed/25082829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu396
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