Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair.
Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Yoshimi
Y
Matsuo
Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. tantanakiotan@yahoo.co.jp.
Akio
A
Tanaka
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Yutaka
Y
Shimomura
Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Michihiro
M
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D044466:Asian People; D002675:Child, Preschool; D006197:Hair / Q000002:abnormalities*; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007564:Japan; D008049:Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites
C504173:LIPC protein, human; D022821:RNA Splice Sites; D008049:Lipase