COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 547-555

  Kennedy, Jason ^a   Jackson, Gail ^a,b   Ramsden, Simon ^a   Taylor, Jacky ^a   Newman, William ^a   Wright, Michael J ^c   Donnai, Dian ^a   Elles, Rob ^a   Briggs, Michael D ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Cartilage oligomeric matrix protein; Gene mutation; Molecular diagnosis; Skeletal dysplasia

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN;

ACCURACY; ACHONDROPLASIA; ARTHRALGIA; ARTICLE; BONE DEVELOPMENT; BONE DYSPLASIA; CHROMOSOME 19P; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; EPITHELIUM DYSPLASIA; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; JOINT STIFFNESS; MAJOR CLINICAL STUDY; MEDICAL DECISION MAKING; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PATIENT COUNSELING; PRIORITY JOURNAL; REPRODUCTION; SEQUENCE ANALYSIS; SHORT STATURE;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GLYCOPROTEINS; HUMANS; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 18844427523     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201374     Document Type: Article

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