RUNX2 analysis of Danish cleidocranial dysplasia families

Clinical Genetics

Volumn 79, Issue 3, 2011, Pages 254-263

  Hansen, L ^a   Riis, A K ^b   Silahtaroglu, A ^a   Hove, H ^c   Lauridsen, E ^a   Eiberg, H ^a   Kreiborg, S ^b,c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c University of Copenhagen   (Denmark)

Author keywords

Cleidocranial dysplasia; Copy number variation; Large deletion; Mutation; PolyGln polyAla repeat; RUNX2

Indexed keywords

ALANINE; POLYGLUTAMINE; TRANSCRIPTION FACTOR RUNX2;

ARTICLE; CHROMOSOME ABERRATION; CLEIDOCRANIAL DYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DENMARK; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; CLEIDOCRANIAL DYSPLASIA; COHORT STUDIES; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DENMARK; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79551626290     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01458.x     Document Type: Article

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