Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood

Journal of the European Academy of Dermatology and Venereology

Volumn 27, Issue 9, 2013, Pages 1182-1184

  Tanahashi, K ^a   Sugiura, K ^a   Takeichi, T ^a,b   Takama, H ^c   Shinkuma, S ^d   Shimizu, H ^d   Akiyama, M ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Inazawa City Hospital   (Japan)

^c Takama Dermatology Clinic   (Japan)

^d HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCEROPHOSPHOLIPID; LIPH PROTEIN; UNCLASSIFIED DRUG;

ADULT; ADULTHOOD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE WOOLLY HAIR; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GENE MUTATION; HAIR; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; JAPANESE; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCALP HAIR;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; FEMALE; HAIR; HAIR DISEASES; HUMANS; HYPOTRICHOSIS; LIPASE; MALE; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84881183437     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2012.04526.x     Document Type: Article

References (10)

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