Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia

American Journal of Medical Genetics

Volumn 90, Issue 3, 2000, Pages 216-222

  Lohiniva, Jaana ^a   Paassilta, Petteri ^a   Seppänen, Ulpu ^a   Vierimaa, Outi ^a   Kivirikko, Sirpa ^b   Ala Kokko, Leena ^a,c  

^a UNIVERSITY OF OULU   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Cartilage; Collagen IX; Multiple epiphyseal dysplasia; Osteochondritis dissecans; Osteochondrodysplasia; Splicing

Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CHONDRODYSPLASIA; GENE MUTATION; GENE SEQUENCE; HUMAN; KNEE OSTEOARTHRITIS; OSTEOCHONDRITIS DISSECANS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA ANALYSIS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; COLLAGEN; DNA; FEMALE; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; RNA SPLICING;

EID: 0034736991     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000131)90:3<216::AID-AJMG6>3.0.CO;2-1     Document Type: Article

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