Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Nature Genetics

Volumn 34, Issue 2, 2003, Pages 151-153

  Levy Nissenbaum, Etgar ^a,b   Betz, Regina C ^c   Frydman, Moshe ^a,b   Simon, Michel ^d   Lahat, Hadas ^a,b   Bakhan, Tengiz ^a,b   Goldman, Boleslaw ^a,b   Bygum, Anette ^e   Pierick, Monika ^f   Hillmer, Axel M ^f   Jonca, Nathalie ^d   Toribio, Jaime ^g   Kruse, Roland ^h   Dewald, Georg ^f   Cichon, Sven ^c   Kubisch, Christian ^f   Guerrin, Marina ^d   Serre, Guy ^d   Nöthen, Markus M ^c   Pras, Elon ^a,b  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITÉ DE TOULOUSE   (France)

^e ODENSE UNIVERSITY HOSPITAL   (Denmark)

^f UNIVERSITY OF BONN   (Germany)

^g UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^h HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CORNEODESMOSIN; GENE PRODUCT; GLYCOPROTEIN; PROTEIN CDSN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CDSN GENE; CONTROLLED STUDY; DERMIS; FAMILIAL DISEASE; GENE; GENETIC ANALYSIS; GENETIC CODE; HAIR FOLLICLE; HAIR ROOT; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; HYPOTRICHOSIS SIMPLEX; KERATINOCYTE; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCALP; SCHOOL CHILD;

BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 6; CODON, NONSENSE; DNA; GLYCOPROTEINS; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; SCALP;

EID: 0037941582     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1163     Document Type: Article

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