A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

American Journal of Human Genetics

Volumn 85, Issue 4, 2009, Pages 515-520

  Ayub, Muhammad ^a,b   Basit, Sulman ^a   Jelani, Musharraf ^a   Rehman, Fazal Ur ^a   Iqbal, Muhammad ^c   Yasinzai, Masoom ^b   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b UNIVERSITY OF BALOCHISTAN   (Pakistan)

^c BOLAN MEDICAL COLLEGE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 3; DESMOGLEIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; UNCLASSIFIED DRUG; DSC3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AFGHANISTAN; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18Q; DESMOCOLLIN 3 GENE; DESMOSOME; EXON; EYEBROW; EYELASH; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HAIR FOLLICLE; HEREDITARY HYPOTRICHOSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; MALE; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCALP; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN; SKIN BIOPSY; ANIMAL; BIOPSY; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; METABOLISM; MOUSE; PATHOLOGY; SKIN DISEASE; STOP CODON;

ADOLESCENT; ANIMALS; BIOPSY; CHILD; CHROMOSOME MAPPING; CODON, NONSENSE; DESMOCOLLINS; DESMOGLEINS; DESMOSOMES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPOTRICHOSIS; LINKAGE (GENETICS); MICE; SKIN; SKIN DISEASES;

EID: 70350492104     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.08.015     Document Type: Article

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