Association and mutation analyses of the irf6 gene in families with nonsyndromic and syndromic cleft lip and/or cleft palate

Cleft Palate-Craniofacial Journal

Volumn 51, Issue 1, 2014, Pages 49-55

  Pegelow, M ^a,b,c   Koillinen, H ^c   Magnusson, M ^d   Fransson, I ^a   Unneberg, P ^a,e   Kere, J ^d   Karsten, A ^a,b   Peyrard Janvid, M ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c Folktandva Rden ^*  (Finland)

^d STOCKHOLM UNIVERSITY   (Sweden)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

AP 2 enhancer; De novo; PDT; TDT; Val274Ile

Indexed keywords

GENOMIC DNA; INTERFERON REGULATORY FACTOR 6; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR AP 2ALPHA; UNCLASSIFIED DRUG; INTERFERON REGULATORY FACTOR; IRF6 PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ARTICLE; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CONTROLLED STUDY; DNA STRAND; ENHANCER REGION; EXON; FAMILIAL DISEASE; FINLAND; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HAPLOTYPE MAP; HUMAN; HYPODONTIA; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; POPLITEAL PTERYGIUM SYNDROME; PRIORITY JOURNAL; PROTEIN BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; SWEDEN; SYNDACTYLY; VAN DER WOUDE SYNDROME; WEBBED NECK; ABNORMALITIES; ALLELE; CYST; DNA MUTATIONAL ANALYSIS; EYE MALFORMATION; FEMALE; FINGER; GENETICS; KNEE; LEG MALFORMATION; LIP; MALE; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ALLELES; CLEFT LIP; CLEFT PALATE; CYSTS; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; FINGERS; GENOTYPE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; KNEE JOINT; LIP; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEDEN; SYNDACTYLY; UROGENITAL ABNORMALITIES;

EID: 84892391100     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/11-220     Document Type: Article

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