title: Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
authors.affiliation: 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.
authors.forename: Ryota
authors.initials: R
authors.lastname: Hayashi
authors.forename: Toshihide
authors.initials: T
authors.lastname: Akasaka
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ito
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D020134:Catalytic Domain / Q000235:genetics; D002648:Child; D005260:Female; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008049:Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: C504173:LIPC protein, human; D008049:Lipase