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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Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T., Fishman, Gerald A., Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H., Allikmets, Rando
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2018
Matèries:
Research Report
Accés en línia: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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