Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

American Journal of Human Genetics

Volumn 76, Issue 3, 2005, Pages 510-516

  Nakabayashi, Kazuhiko ^a   Amann, Daniela ^c   Ren, Yan ^a   Saarialho Kere, Ulpu ^d,e   Avidan, Nili ^c   Gentles, Simone ^a   MacDonald, Jeffrey R ^a   Puffenberger, Erik G ^f   Christiano, Angela M ^g   Martinez Mir, Amalia ^g   Salas Alanis, Julio C ^g   Rizzo, Renata ^h   Vamos, Esther ⁱ   Raams, Anja ^j   Les, Clifford ^k   Seboun, Eric ^l   Jaspers, Nicolaas G J ^j   Beckmann, Jacques S ^c,m   Jackson, Charles E ⁿ   Scherer, Stephen W ^a,b,o  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^d UNIVERSITY OF HELSINKI   (Finland)

^e STOCKHOLM SÖDER HOSPITAL   (Sweden)

^f CLINIC FOR SPECIAL CHILDREN   (United States)

^g Och Spine at New York Presbyterian Hospitals   (United States)

^h UNIVERSITY OF CATANIA   (Italy)

ⁱ ERASME HOSPITAL   (Belgium)

^j ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^k HENRY FORD HOSPITAL   (United States)

^l SORBONNE UNIVERSITÉ   (France)

^m LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁿ SCOTT AND WHITE MEMORIAL HOSPITAL   (United States)

^o NONE   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR IIH;

AMISH BRITTLE HAIR SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; C7ORF11 GENE; CHROMOSOME 7P; CLINICAL FEATURE; DNA REPAIR; DNA TRANSCRIPTION; GENE; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HAIR DISEASE; HAIR FOLLICLE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; INFERTILITY; MENTAL DEFICIENCY; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PHOTOSENSITIVITY DISORDER; POLLITT SYNDROME; PRIORITY JOURNAL; SABINAS SYNDROME; SHORT STATURE; TRICHOTHIODYSTROPHY; TTDN1 GENE;

EID: 13844251789     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/428141     Document Type: Article

References (20)

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