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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Detalles Bibliográficos
Autores principales: Tanabe, Fuminori, Kasai, Hirotake, Morimoto, Michiko, Oh, Shigeharu, Takada, Hidetoshi, Hara, Toshiro, Ito, Masahiko
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014749/
https://www.ncbi.nlm.nih.gov/pubmed/21209802
http://dx.doi.org/10.1155/2010/464671

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014749/
https://www.ncbi.nlm.nih.gov/pubmed/21209802
http://dx.doi.org/10.1155/2010/464671

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