Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of the ABCA4 locus in STGD1 patients identifies two expected disease-causing alleles in ∼75% of patients and only one mutation in ∼15% of patients. Recently, many possibly pathogen...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T., Fishman, Gerald A., Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H., Allikmets, Rando
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6071568/
https://ncbi.nlm.nih.gov/pubmed/29848554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002733
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