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Homozygous osteogenesis imperfecta unlinked to collagen I genes.

Authors :
Aitchison K
Ogilvie D
Honeyman M
Thompson E
Sykes B
Source :
Human genetics [Hum Genet] 1988 Mar; Vol. 78 (3), pp. 233-6.
Publication Year :
1988

Abstract

In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.

Subjects

Subjects :
Consanguinity
Genetic Markers
Humans
Infant, Newborn
Male
Osteogenesis Imperfecta diagnostic imaging
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
Radiography
Collagen genetics
Genetic Linkage
Homozygote
Osteogenesis Imperfecta genetics

Details

Language :
English
ISSN :
0340-6717
Volume :
78
Issue :
3
Database :
MEDLINE
Journal :
Human genetics
Publication Type :
Academic Journal
Accession number :
2894346
Full Text :
https://doi.org/10.1007/BF00291667
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