A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis

Journal of Investigative Dermatology

Volumn 132, Issue 10, 2012, Pages 2342-2349

  Fujimoto, Atsushi ^a   Farooq, Muhammad ^a   Fujikawa, Hiroki ^a   Inoue, Asuka ^b   Ohyama, Manabu ^c   Ehama, Ritsuko ^d   Nakanishi, Jotaro ^d   Hagihara, Motofumi ^d   Iwabuchi, Tokuro ^d   Aoki, Junken ^b   Ito, Masaaki ^a   Shimomura, Yutaka ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d SHISEIDO RESEARCH CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; KERATIN K71; LIPASE H; LYSOPHOSPHATIDIC ACID RECEPTOR; LYSOPHOSPHATIDIC ACID RECEPTOR 6; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DISRUPTION; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPOTRICHOSIS; JAPANESE; MALE; MISSENSE MUTATION; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN MOTIF; RAT; WOOLLY HAIR;

EID: 84866357931     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.154     Document Type: Article

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