about
Identification and characterization of the human type II collagen gene (COL2A1)Collagen genes and proteins in osteogenesis imperfecta.Mutations in collagen genes. Consequences for rare and common diseasesOsteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.Articular hypermobility simulating chronic rheumatic diseaseMolecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfectaKniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assemblyNuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfectaGenetic disorders of collagen
P2860
Q24567997-3C0D114D-A589-4EE2-94A2-3CE21BA8342FQ33672258-D314722D-B303-4330-8098-8A770AAD9845Q34535366-B4D53272-4755-4C71-AD03-40837BB00DEEQ34549103-0E4CC56F-C1BA-441C-AA09-9C260F86FE6AQ35118057-863F2249-1DB0-4179-A83D-24502211D601Q35200439-6CF7CD9F-A09E-427F-888C-49088409D243Q35204625-0D45E540-C980-49DF-A2FD-FFDF2EE57353Q35810097-5EFAB1EA-8FF6-40C7-B6C4-05DF156A6452Q36273390-40438969-CA81-4E2D-9290-A9E8C70D226AQ36991255-7897B9C1-3A4F-4957-B7B3-EA3617168BABQ39755136-21B673B2-6B9C-43ED-9E58-718989ADE50C
P2860
description
1982 nî lūn-bûn
@nan
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
1982年论文
@zh
1982年论文
@zh-cn
name
Genetic disorders of collagen metabolism.
@en
type
label
Genetic disorders of collagen metabolism.
@en
prefLabel
Genetic disorders of collagen metabolism.
@en
P2093
P1476
Genetic disorders of collagen metabolism
@en
P2093
Holbrook KA
Hollister DW
P577
1982-01-01T00:00:00Z