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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment. They had no symptoms suggestive of involvement of nonocular tissues, as is typically found in th...

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Bibliografiset tiedot
Päätekijät: Körkkö, J, Ritvaniemi, P, Haataja, L, Kääriäinen, H, Kivirikko, K I, Prockop, D J, Ala-Kokko, L
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1993
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682228/
https://ncbi.nlm.nih.gov/pubmed/8317498
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