Mutated/MESP2 causes spondylocostal dysostosis in humans

American Journal of Human Genetics

Volumn 74, Issue 6, 2004, Pages 1249-1254

  Whittock, Neil V ^a   Sparrow, Duncan B ^b   Wouters, Merridee A ^b   Sillence, David ^c,d   Ellard, Sian ^a   Dunwoodie, Sally L ^b,d   Turnpenny, Peter D ^a  

^a ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^b VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DELTA LIKE 3 PROTEIN; GENE PRODUCT; HELIX LOOP HELIX PROTEIN; LIGAND; NOTCH RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CHROMOSOME 15Q; CHROMOSOME 19Q; COHORT ANALYSIS; FEMALE; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; JARCHO LEVIN SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 2442713782     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/421053     Document Type: Article

References (18)

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