An 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 collagen

An 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 collagen

Item
http://www.wikidata.org/entity/Q35597903
Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenBisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long?Genetic and environmental factors affecting bone mineral density in large families.Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Collagens and their abnormalities in a wide spectrum of diseases.Chemical cleavage of heteroduplex DNA to identify mutations.The genetic implication of scoliosis in osteogenesis imperfecta: a review.Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
P2860

An 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 collagen

Item
http://www.wikidata.org/entity/Q35597903
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@ast
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@en
type
label
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@ast
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@en
prefLabel
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@ast
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P932
P356
P1433
P1476
An osteopenic nonfracture synd ...... 1(I) chain of type I collagen
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P932