Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
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2. Dyschromatosis
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4. A gene locus responsible for dyschromatosis symmtrica hereditaria (DSH) maps to chromosome 6q24.2–q25.2;Xing;Am J Hum Genet,2003
5. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21–q23;Stuhrmann;Clin Genet,2008
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1. SASH1 impairs melanin synthesis and metastasis by down-regulating the TGF-β signaling pathway;2024-05-26
2. The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria;Journal of Molecular Medicine;2023-02-15
3. Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria;BMC Medical Genomics;2021-06-26
4. Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis;Frontiers in Genetics;2020-08-04
5. Dyschromatosis;Harper's Textbook of Pediatric Dermatology;2019-11-20
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