Monilethrix: A novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6

Journal of Investigative Dermatology

Volumn 113, Issue 2, 1999, Pages 263-266

  Winter, Hermelita ^a   Clark, Robin D ^b   Tarras Wahlberg, Caspar ^c   Rogers, Michael A ^a   Schweizer, Jürgen ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c Höglandssjukhuset Eksjö   (Sweden)

Author keywords

Hair disease; Human; Keratin; Point mutation

Indexed keywords

KERATIN;

ADULT; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE MUTATION; HAIR DISEASE; HUMAN; MALE; MONILETHRIX; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0033498698     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00685.x     Document Type: Article

References (18)

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