Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 98-110

  Körkkö, Jarmo ^a,d   Ala Kokko, Leena ^a,d   De Paepe, Anne ^c   Nuytinck, Lieve ^c   Earley, James ^a,b   Prockop, Darwin J ^a  

^a DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY OF OULU   (Finland)

^d GHENT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

ARTICLE; CLINICAL ARTICLE; CONSENSUS SEQUENCE; DNA POLYMORPHISM; FIBROBLAST CULTURE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; OSTEOGENESIS IMPERFECTA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SKIN BIOPSY; SYNDROME DELINEATION;

EID: 0031941142     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301689     Document Type: Article

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