Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To...

Descripción completa

Detalles Bibliográficos
Autores principales: Song, Yinsen, Dong, Zhengping, Luo, Shuying, Yang, Junmei, Lu, Yuebing, Gao, Bo, Fan, Tianli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916/
https://www.ncbi.nlm.nih.gov/pubmed/31906877
http://dx.doi.org/10.1186/s12881-019-0922-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916/
https://www.ncbi.nlm.nih.gov/pubmed/31906877
http://dx.doi.org/10.1186/s12881-019-0922-8

Ejemplares similares