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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| 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 |