Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patie...

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Detalhes bibliográficos
Main Authors: Tanabe, Fuminori, Kasai, Hirotake, Morimoto, Michiko, Oh, Shigeharu, Takada, Hidetoshi, Hara, Toshiro, Ito, Masahiko
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2010
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014749/
https://ncbi.nlm.nih.gov/pubmed/21209802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2010/464671
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