Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
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Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnoverPhenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)Perspective on post-menopausal osteoporosis: establishing an interdisciplinary understanding of the sequence of events from the molecular level to whole bone fractures.Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Heritable collagen disorders: from genotype to phenotype.Bone fragility and collagen cross-links.Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locusAn osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagenAtypical femoral fracture following bisphosphonate treatment in a woman with osteogenesis imperfecta--a case report.Genetic and environmental factors affecting bone mineral density in large families.Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexesIntron retention generates a novel isoform of the murine vitamin D receptor that acts in a dominant negative way on the vitamin D signaling pathway.Genetics of osteoporosis: searching for candidate genes for bone fragility.Software and database for the analysis of mutations in the human FBN1 gene.Genetics, calcium intake and osteoporosis.Collagens and their abnormalities in a wide spectrum of diseases.Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.Searching for gene defects that cause high bone mass.Fourier transform Infrared spectroscopic characterization of mineralizing type I collagen enzymatic trivalent cross-links.Osteoporosis: Genetic Effects on Bone Turnover and Bone Density
P2860
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P2860
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 1991
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutation in a gene for type I ...... mild osteogenesis imperfecta.
@en
Mutation in a gene for type I procollagen
@nl
type
label
Mutation in a gene for type I ...... mild osteogenesis imperfecta.
@en
Mutation in a gene for type I procollagen
@nl
prefLabel
Mutation in a gene for type I ...... mild osteogenesis imperfecta.
@en
Mutation in a gene for type I procollagen
@nl
P2093
P2860
P356
P1476
Mutation in a gene for type I ...... mild osteogenesis imperfecta.
@en
P2093
C D Constantinou
D J Prockop
L D Spotila
P2860
P304
P356
10.1073/PNAS.88.12.5423
P407
P577
1991-06-01T00:00:00Z