Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair

Journal of Dermatology

Volumn 38, Issue 9, 2011, Pages 900-904

  Yoshimasu, Takashi ^a   Kanazawa, Nobuo ^a   Kambe, Naotomo ^b   Nakamura, Motonobu ^c   Furukawa, Fukumi ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY   (Japan)

^c UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

autosomal recessive; Japanese; lipase H; mutation; P2RY5; woolly hair

Indexed keywords

TRIACYLGLYCEROL LIPASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CATALYSIS; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENOME; HAIR; HAIR DISEASE; HAIR TEXTURE; HUMAN; HYPOTRICHOSIS; JAPANESE; MALE; PEDIGREE ANALYSIS; PHENOTYPE; SIBLING; WOOLLY HAIR;

ALLELES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; HAIR DISEASES; HOMOZYGOTE; HUMANS; JAPAN; LIPASE; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 80052058969     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2010.01101.x     Document Type: Article

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