Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 1948-1951

  Rinne, Tuula ^a   Bolat, Emine ^a   Meijer, Rowdy ^a   Scheffer, Hans ^a   Van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

AEC; Ectodermal dysplasia; p63; RHS; SAM domain; TI domain; TP63

Indexed keywords

GENOMIC DNA; PROTEIN P63;

AEC SYNDROME; ARTICLE; CLINICAL ARTICLE; CLINICAL EVALUATION; DNA DETERMINATION; EXON; GENE MUTATION; GENETIC CODE; HUMAN; INDEL MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; RELATIVE; SEQUENCE ALIGNMENT; SPLICING DEFECT;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CLEFT LIP; CLEFT PALATE; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EXONS; EYELIDS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MONOMERIC GTP-BINDING PROTEINS; MUTATION; PROTEIN ISOFORMS; SEQUENCE ALIGNMENT; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 69249135920     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32793     Document Type: Article

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