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: Yinsen Song (Author), Zhengping Dong (Author), Shuying Luo (Author), Junmei Yang (Author), Yuebing Lu (Author), Bo Gao (Author), Tianli Fan (Author)
Format: Book
Published: BMC, 2020-01-01T00:00:00Z.
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3rd Floor Main Library

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