Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome

Chediak–Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (l...

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Detalles Bibliográficos
Autores principales: Jin, Yaqiong, Zhang, Li, Wang, Senfen, Chen, Feng, Gu, Yang, Hong, Enyu, Yu, Yongbo, Ni, Xin, Guo, Yongli, Shi, Tieliu, Xu, Zigang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286514/
https://www.ncbi.nlm.nih.gov/pubmed/28145517
http://dx.doi.org/10.1038/srep41308

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