Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diat...

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Detalles Bibliográficos
Autores principales: Wang, Zhao-Xia, Liu, Yi-Hui, Dong, Yi, Li, Ya-Li, Tang, Tie-Yu, Fan, Liang-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487392/
https://www.ncbi.nlm.nih.gov/pubmed/34608437
http://dx.doi.org/10.1155/2021/4535349

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