Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

Human Molecular Genetics

Volumn 24, Issue 5, 2015, Pages 1234-1242

  McInerney Leo, Aideen M ^a   Sparrow, Duncan B ^b,c   Harris, Jessica E ^a   Gardiner, Brooke B ^a   Marshall, Mhairi S ^a   O'Reilly, Victoria C ^b   Shi, Hongjun ^b   Brown, Matthew A ^a   Leo, Paul J ^a   Zankl, Andreas ^e,f   Dunwoodie, Sally L ^b,c,d   Duncan, Emma L ^a,g,h  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^c ST VINCENT'S CLINIC   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f SYDNEY CHILDREN'S HOSPITAL   (Australia)

^g ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^h UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RIPPLY2 PROTEIN; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; MESP2 PROTEIN, MOUSE; REPRESSOR PROTEIN; RIPPLY2 PROTEIN, MOUSE; STOP CODON; TBX6 PROTEIN, MOUSE; TRANSCRIPTION FACTOR;

ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONSENSUS SEQUENCE; CONTROLLED STUDY; DEFENSE MECHANISM; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MALE; MOLECULAR CLONING; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SEGMENTATION DEFECT OF THE VERTEBRAE; SIGNAL TRANSDUCTION; SPINE DISEASE; STOP CODON; ANIMAL; BONE DYSPLASIA; C57BL MOUSE; CELL CULTURE; DISEASE MODEL; EXOME; EXON; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; KNOCKOUT MOUSE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; QUANTITATIVE TRAIT; RNA SPLICING; SOMITE; SPINE;

VERTEBRATA;

ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BONE DISEASES, DEVELOPMENTAL; CELLS, CULTURED; CODON, NONSENSE; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTANT PROTEINS; MUTATION; PEDIGREE; QUANTITATIVE TRAIT, HERITABLE; REPRESSOR PROTEINS; RNA SPLICING; SOMITES; SPINE; TRANSCRIPTION FACTORS;

EID: 84924462987     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu534     Document Type: Article

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