Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family

J Dermatol. 2014 Oct;41(10):937-8. doi: 10.1111/1346-8138.12612. Epub 2014 Sep 9.

Authors

Ryota Hayashi¹, Toshihide Akasaka, Masaaki Ito, Yutaka Shimomura

Affiliation

¹ Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

PMID: 25201209
DOI: 10.1111/1346-8138.12612

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Asian People / genetics
Catalytic Domain / genetics
Child
Female
Hair Diseases / genetics*
Heterozygote
Humans
Japan
Lipase / genetics*
Male
Mutation

Substances

LIPC protein, human
Lipase