Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient

Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process. The MYO5A-MLPH-RAB27A ternary protein complex is required for anchoring mature melanosomes in the peripheral actin filaments of melanocytes for subs...

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Detalles Bibliográficos
Autores principales: Huang, Qiaorong, Yuan, Yefeng, Gong, Juanjuan, Zhang, Tianjiao, Qi, Zhan, Yang, Xiumin, Li, Wei, Wei, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120966/
https://www.ncbi.nlm.nih.gov/pubmed/35602484
http://dx.doi.org/10.3389/fmed.2022.896943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120966/
https://www.ncbi.nlm.nih.gov/pubmed/35602484
http://dx.doi.org/10.3389/fmed.2022.896943

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