Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

American Journal of Medical Genetics

Volumn 133 A, Issue 1, 2005, Pages 61-67

  Zankl, Andreas ^a   Neumann, Luitgard ^b   Ignatius, Jaako ^c   Nikkels, Peter ^d   Schrander Stumpel, Connie ^e   Mortier, Geert ^f   Omran, Heymut ^g   Wright, Michael ^h   Hilbert, Katja ⁱ   Bonafé, Luisa ^a   Spranger, Juergen ⁱ   Zabel, Bernhard ⁱ   Superti Furga, Andrea ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF FREIBURG   (Germany)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Genotype phenotype correlation; Non sense mediated mRNA decay; Spondyloperipheral dysplasia

Indexed keywords

C PEPTIDE; COLLAGEN TYPE 2; RNA;

ARTICLE; BONE DYSPLASIA; CARTILAGE CELL; COLLAGEN DISEASE; COLLAGEN SYNTHESIS; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; STOP CODON;

CHILD, PRESCHOOL; COLLAGEN TYPE II; FATAL OUTCOME; FEMALE; FETAL DEATH; FOLLOW-UP STUDIES; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE;

EID: 19944432664     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30531     Document Type: Article

References (18)

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