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1.
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
Clin Genet
; 82(5): 453-9, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21955071
2.
Cortical bone properties in the Brtl/+ mouse model of Osteogenesis imperfecta as evidenced by acoustic transmission microscopy.
J Mech Behav Biomed Mater
; 90: 125-132, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30366302
3.
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
J Med Genet
; 43(8): 685-90, 2006 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16882741
4.
High-level expression of the human CB2 cannabinoid receptor using a baculovirus system.
Biochem Pharmacol
; 55(11): 1893-905, 1998 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-9714308
5.
G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.
Mol Genet Metab
; 72(4): 326-35, 2001 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-11286507
6.
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
J Biol Chem
; 276(16): 13356-64, 2001 Apr 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-11278977
7.
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
Hum Mutat
; 11(5): 395-403, 1998.
Artículo
en Inglés
| MEDLINE | ID: mdl-9600458
8.
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
Am J Med Genet A
; 131(2): 155-62, 2004 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15523625
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