Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype

Journal of Investigative Dermatology

Volumn 113, Issue 4, 1999, Pages 607-612

  Korge, Bernhard P ^g   Hamm, Henning ^h   Jury, Catherine S ^a   Traupe, Heiko ^h   Irvine, Alan D ^b   Healy, Eugene ^c   Birch Machin, Mark ^c   Rees, Jonathan L ^c   Messenger, Andrew G ^d   Holmes, Susan C ^e   Parry, David A D ^f   Munro, Colin S ^a  

^a SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^b ROYAL VICTORIA HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^e GLASGOW ROYAL INFIRMARY   (United Kingdom)

^f MASSEY UNIVERSITY   (New Zealand)

^g UNIVERSITY OF COLOGNE   (Germany)

^h NONE

Author keywords

Hair diseases; Hair keratins; Intermediate filaments; Monilethrix; Protein structure

Indexed keywords

KERATIN; MUTANT PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MALE; MONILETHRIX; PEDIGREE; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; UNITED KINGDOM;

EID: 0012920802     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00722.x     Document Type: Article

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