Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

Human Genetics

Volumn 129, Issue 4, 2011, Pages 419-424

  Wasif, Naveed ^a   Naqvi, Syed Kamran Ul Hassan ^a   Basit, Sulman ^a   Ali, Nadir ^a   Ansar, Muhammad ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; KERATIN 71; KERATIN 74; KERATIN TYPE II; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT WOOLLY HAIR; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE CLUSTER; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPOTRICHOSIS; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PAKISTAN; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENOTYPE; HAIR DISEASES; HUMANS; HYPOTRICHOSIS; KERATINS, HAIR-SPECIFIC; KERATINS, TYPE II; MALE; MUTATION; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; RNA SPLICE SITES;

EID: 79953834314     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0938-9     Document Type: Article

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