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...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2020-01-01T00:00:00Z.
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