A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 265-272

  Mendoza Fandino, Ga ^a   Gee, Jm ^a,b   Ben Dor, S ^c   Gonzalez Quevedo, C ^a   Lee, K ^d   Kobayashi, Y ^e   Hartiala, J ^a   Myers, Rm ^e,f   Leal, Sm ^d   Allayee, H ^a   Patel, Pi ^a,b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

Author keywords

Hypodontia; Molars; Multiple species conserved sequence; Mutation; PAX9; Tooth agenesis

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR PAX9;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT MOLAR HYPODONTIA; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HYPODONTIA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

5' FLANKING REGION; ANIMALS; ANODONTIA; BASE SEQUENCE; CARNIVORA; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; COMPUTATIONAL BIOLOGY; CONSERVED SEQUENCE; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; MOLAR; MOLECULAR SEQUENCE DATA; MUTATION; ODONTOGENESIS; PAX9 TRANSCRIPTION FACTOR; PEDIGREE; PHENOTYPE; RODENTIA; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

PRIMATES; RODENTIA; UNGULATA;

EID: 79961127062     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01529.x     Document Type: Article

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