Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix

Dermatology

Volumn 206, Issue 4, 2003, Pages 338-340

  Muramatsu, Shigenori ^a   Kimura, Tami ^a   Ueki, Rie ^a   Tsuboi, Ryoji ^b   Ikeda, Shigaku ^a,c   Ogawa, Hideoki ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

^c JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Gene; hHb6; Monilethrix; Mutation

Indexed keywords

GLUTAMINE; KERATIN; LYSINE;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; DARIER DISEASE; DYSTROPHY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC CODE; GENOTYPE; HUMAN; INFORMED CONSENT; JAPAN; MONILETHRIX; PHENOMENOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCALP HAIR; SCANNING ELECTRON MICROSCOPY; SCANTY HAIR;

CHILD, PRESCHOOL; CODON; FEMALE; HAIR; HUMANS; HYPOTRICHOSIS; JAPAN; KERATINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0037640955     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000069948     Document Type: Article

References (16)

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