An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1961-1971

  Vernersson Lindahl, Emma ^a,d   Garcia, Elvin L ^a,b,c   Mills, Alea A ^a  

^a Cold Spring Harbor Laboratory ^*  (United States)

^b STONY BROOK UNIVERSITY   (United States)

^c Department of Ecosystem Science and Sustainability   (United States)

^d UMEÅ UNIVERSITY   (Sweden)

Author keywords

Cleft palate; EEC syndrome; Genetic modifier; Limb defects; Mouse model; TAp63; TP53 homologue; TP63; TP63 p.Arg279His; Trp63

Indexed keywords

ARGININE; HISTIDINE; PROTEIN P63;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EEC SYNDROME; EMBRYO; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC CODE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; TAP63 GENE; TRP63 GENE;

CLEFT PALATE; EEC SYNDROME; GENETIC MODIFIER; LIMB DEFECTS; MOUSE MODEL; TAP63; TP53 HOMOLOGUE; TP63; TP63 P.ARG279HIS; TRP63;

ALLELES; ANIMALS; BLOTTING, SOUTHERN; CLEFT LIP; CLEFT PALATE; DISEASE MODELS, ANIMAL; ECTODERMAL DYSPLASIA; HETEROZYGOTE; HUMANS; MICE; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

MUS;

EID: 84880748982     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36074     Document Type: Article

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