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Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: establishment of a useful assay …

Journal of Dermatological Science. 2015-06;

RyotaHayashi,AsukaInoue,YasushiSuga,JunkenAoki,YutakaShimomura

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Gene Synthesis	… COVID-19 campus closures: see … in families with the disease, while LPAR6 mutations have not yet been found in any Japanese patient [19], [22], [23 … 1) and synthesized by Genscript (Piscataway, NJ, USA) so that the amino acid sequences were unchanged and the efficiency of …	Get A Quote

摘要

Woolly hair (WH) is a hair shaft anomaly characterized by tightly-curled hair and is frequently associated with hypotrichosis. Non-syndromic forms of WH can show either autosomal dominant or recessive inheritance. The autosomal recessive form of WH (ARWH) is caused by mutations in either lipase H (LIPH) or lysophosphatidic acid receptor 6 (LPAR6) gene, encoding an LPA-producing enzyme PA-PLA1a and an LPA receptor LPA6, respectively.