A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive multisystem disorder characterized by oculocutaneous albinism (OCA) and bleeding diathesis, although it displays both genetic and phenotypic heterogeneity. Several genetic subtypes of HPS have been identified in human; however, the charac...

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Detalles Bibliográficos
Autores principales: Wu, Wenjuan, Lin, Keqin, Yang, Yanni, Dong, ZhaoXing, Zhang, Tao, Lei, Wen, Yang, Weimin, Yang, Zhaoqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831253/
https://www.ncbi.nlm.nih.gov/pubmed/31415434
http://dx.doi.org/10.1097/MD.0000000000016899

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