A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I

Matrix Biology

Volumn 16, Issue 6, 1998, Pages 349-352

  Nuytinck, L ^a   Coppin, C ^a   De Paepe, A ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

COL1A1 gene; Mild Osteogenesis imperfecta; Null allele detection; Polymorphism

Indexed keywords

COLLAGEN TYPE 1; DNA; DNA MARKER;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA POLYMORPHISM; GENE INSERTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0031973268     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(98)90007-5     Document Type: Article

References (7)

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6. Willing, M.C., Pruchno, C.J., Atkinson, M. and Byers, P.H.: Osteogenesis imperfecta type 1 is commonly due to a COL1A1 null allele of type I collagen. Am. J. Hum. Genet. 51: 508-515, 1992.
7. Willing, M.C., Slayton, R.L., Pitts, S.H. and Deschenes, S.P.: Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with ostcogenesis imperfecta type I. J. Med. Genet. 32: 697-700, 1995.