A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene

British Journal of Dermatology

Volumn 161, Issue 2, 2009, Pages 468-469

  Oiso, N ^a   Kishida, K ^b   Fukai, K ^c   Motokawa, T ^d   Hosomi, N ^e   Suzuki, T ^f   Mitsuhashi, Y ^b   Tsuboi, R ^b   Kawada, A ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

^c OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d POLA CHEMICAL INDUSTRIES INC   (Japan)

^e Kashiwara Municipal Hospital   (Japan)

^f YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN 1 RECEPTOR; STEM CELL FACTOR RECEPTOR;

ARTICLE; CASE REPORT; FEMALE; GENETICS; HAIR COLOR; HOMOZYGOTE; HUMAN; INFANT; MISSENSE MUTATION; PHENOTYPE; PIEBALDISM;

FEMALE; HAIR COLOR; HOMOZYGOTE; HUMANS; INFANT; MUTATION, MISSENSE; PHENOTYPE; PIEBALDISM; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, MELANOCORTIN, TYPE 1;

EID: 73349128434     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09138.x     Document Type: Article

References (10)

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