Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex
نویسندگان
چکیده
منابع مشابه
Modeling the structural consequences of BEST1 missense mutations.
Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disease phenotypes, broadly termed as bestrophinopathies. A spontaneous animal model recapitulating BEST1related phenotypes, canine multifocal retinopathy (cmr), is caused by mutations in th...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2019
ISSN: 1422-0067
DOI: 10.3390/ijms20153756