The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Journal of Medical Genetics

Volumn 43, Issue 5, 2006, Pages 406-413

  Hoornaert, K P ^a   Dewinter, C ^a   Vereecke, I ^a   Beemer, F A ^b   Courtens, W ^c   Fryer, A ^d   Fryssira, H ^e   Lees, M ^f   Mullner Eidenbock A ^g   Rimoin, D L ^h   Siderius, L ⁱ   Superti Furga, A ^j   Temple, K ^k   Willems, P J ^l   Zankl, A ^m   Zweier, C ⁿ   De Paepe, A ^a   Coucke, P ^a   Mortier, G R ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^e AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g MEDICAL UNIVERSITY OF VIENNA   (Austria)

^h CEDARS SINAI MEDICAL CENTER   (United States)

ⁱ Ziekenhuis Hilversum   (Netherlands)

^j UNIVERSITY OF FREIBURG   (Germany)

^k UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^l Genetic Diagnostics Belgium   (Belgium)

^m Clinique Infantile   (Switzerland)

ⁿ UNIVERSITY HOSPITAL ERLANGEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COLLAGEN TYPE 2; CYSTEINE;

AMINO ACID SUBSTITUTION; ARTICLE; BODY HEIGHT; BONE RADIOGRAPHY; BRACHYDACTYLY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EYE DISEASE; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERINATAL MORBIDITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPONDYLOARTHROPATHY; SPONDYLOEPIPHYSEAL DYSPLASIA; STICKLER SYNDROME;

ADULT; ARGININE; CHILD; CHILD, PRESCHOOL; COLLAGEN DISEASES; COLLAGEN TYPE II; CYSTEINE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 33646405997     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.035717     Document Type: Article

References (30)

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