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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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2014
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Articles
Linkit: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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