Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1278-1282

  Briggs, Michael D ^a   Brock, Joanne ^b   Ramsden, Simon C ^b   Bell, Peter A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b St Mary's Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP PROTEIN, HUMAN;

ARTICLE; BONE DYSPLASIA; CHONDRODYSPLASIA; DISEASE SEVERITY; EPIPHYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MULTIPLE EPIPHYSEAL DYSPLASIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTIVE VALUE; PROGNOSIS; PROMOTER REGION; PSEUDOACHONDROPLASIA; TRINUCLEOTIDE REPEAT; ACHONDROPLASIA; AMINO ACID SEQUENCE; GENETICS; GENOTYPE; METABOLISM; MOLECULAR GENETICS; OSTEOCHONDRODYSPLASIAS;

ACHONDROPLASIA; AMINO ACID SEQUENCE; CARTILAGE OLIGOMERIC MATRIX PROTEIN; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROGNOSIS;

EID: 84908553448     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.30     Document Type: Article

References (14)

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