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Volumn 146, Issue 2, 2002, Pages 216-220
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EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: Heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis
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Author keywords
EEC syndrome; Genodermatosis; p63 gene mutation; Prenatal diagnosis
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Indexed keywords
ARGININE;
ENDONUCLEASE;
GENOMIC DNA;
HISTIDINE;
PROTEIN P63;
ADULT;
ALLELE;
AMINO ACID SEQUENCE;
ARTICLE;
CASE REPORT;
CHORION VILLUS;
CLINICAL FEATURE;
CONTROLLED STUDY;
DATA BASE;
DNA EXTRACTION;
ECTODERMAL DYSPLASIA;
ECTRODACTYLY;
EXON;
FEMALE;
FETUS;
FIRST TRIMESTER PREGNANCY;
GENETIC COUNSELING;
HETEROZYGOTE DETECTION;
HOMOZYGOSITY;
HUMAN;
MISSENSE MUTATION;
NUCLEOTIDE SEQUENCE;
PREDICTION;
PRENATAL DIAGNOSIS;
PRIORITY JOURNAL;
PROTEIN DNA BINDING;
PROTEIN DOMAIN;
ABNORMALITIES, MULTIPLE;
ADULT;
CHILD;
DNA MUTATIONAL ANALYSIS;
DNA-BINDING PROTEINS;
ECTODERMAL DYSPLASIA;
FEMALE;
GENES, TUMOR SUPPRESSOR;
GENETIC SCREENING;
GERM-LINE MUTATION;
HUMANS;
MALE;
MEMBRANE PROTEINS;
MIDDLE AGED;
MUTATION, MISSENSE;
PEDIGREE;
PHOSPHOPROTEINS;
PRENATAL DIAGNOSIS;
SYNDROME;
TOES;
TRANS-ACTIVATORS;
TUMOR SUPPRESSOR PROTEINS;
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EID: 0036207517
PISSN: 00070963
EISSN: None
Source Type: Journal
DOI: 10.1046/j.1365-2133.2002.04638.x Document Type: Article |
Times cited : (24)
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References (12)
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