Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Abstract 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 mo...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-01-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12881-019-0922-8 |