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Clinical Correlate: Osteogenesis Imperfecta

Clinical Correlate: Osteogenesis Imperfecta

http://www.wikidata.org/entity/Q57197754

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Clinical Correlate: Osteogenesis Imperfecta

http://www.wikidata.org/entity/Q57197754

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wetenschappelijk artikel

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наукова стаття, опублікована у квітні 2013

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name

Clinical Correlate: Osteogenesis Imperfecta

@en

Clinical Correlate: Osteogenesis Imperfecta

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type

label

Clinical Correlate: Osteogenesis Imperfecta

@en

Clinical Correlate: Osteogenesis Imperfecta

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Clinical Correlate: Osteogenesis Imperfecta

@en

Clinical Correlate: Osteogenesis Imperfecta

@nl

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9781118704868.CH13

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Clinical Correlate: Osteogenesis Imperfecta

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Peter H. Byers

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P2860

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Heterozygous TGFBR2 mutations in Marfan syndrome

Collagens, modifying enzymes and their mutations in humans, flies and worms.

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

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111-115

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scholarly article

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10.1002/9781118704868.CH13

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2013-04-05T00:00:00Z

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osteogenesis imperfecta