Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

Cell

Volumn 99, Issue 2, 1999, Pages 143-153

  Celli, Jacopo ^a   Duijf, Pascal ^a   Hamel, Ben C J ^a   Bamshad, Michael ^b   Kramer, Bridget ^b   Smits, Arie P T ^a   Newbury Ecob, Ruth ^c   Hennekam, Raoul C M ^d   Van Buggenhout, Griet ^e   Van Haeringen, Arie ^f   Geoffrey Woods, C ^g   Van Essen, Anthonie J ^h   De Waal, Rob ^a   Vriend, Gert ⁱ   Haber, Daniel A ^j   Yang, Annie ^k   McKeon, Frank ^k   Brunner, Han G ^a   Van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h UNIVERSITY OF GRONINGEN   (Netherlands)

ⁱ RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^j MASSACHUSETTS GENERAL HOSPITAL   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLEFT FACE; DNA BINDING; ECTODERMAL DYSPLASIA; ECTRODACTYLY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GERM LINE; HETEROZYGOSITY; NONHUMAN; PRIORITY JOURNAL; REPORTER GENE;

EID: 0032744735     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81646-3     Document Type: Article

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