Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
about
Cloning and chromosomal localization of human genes encoding the three chains of type VI collagenClinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.Segregation analysis of dominant osteogenesis imperfecta in ItalyPrenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstabOsteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype
P2860
Q24679463-2B62B7BD-77DD-46EF-9D72-5E4A4A6AC7E9Q33593003-563254DD-E8E6-41D7-9ED6-FEDAB988E0FFQ33597818-E9090BC4-FBDE-4DF1-8339-51CBE25E56E6Q33675375-83E5958F-57CE-44A3-816A-B80AC77458B6Q34241036-A4574C53-0765-4420-BA9A-0F30C6E3584BQ34566616-BAE3857A-2D2D-487C-8968-8181AE68D44BQ35815832-8B8E6EE4-9EFA-4056-98B1-948BECCE680F
P2860
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
description
1986 nî lūn-bûn
@nan
1986 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Osteogenesis imperfecta type I ...... tic linkage to the pro alpha 2
@nl
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@ast
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@en
type
label
Osteogenesis imperfecta type I ...... tic linkage to the pro alpha 2
@nl
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@ast
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@en
prefLabel
Osteogenesis imperfecta type I ...... tic linkage to the pro alpha 2
@nl
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@ast
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@en
P2093
P2860
P356
P1476
Osteogenesis imperfecta type I ...... 2(I) gene of type I collagen.
@en
P2093
P Tsipouras
R J Wenstrup
P2860
P304
P356
10.1172/JCI112735
P407
P577
1986-12-01T00:00:00Z