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Further evidence that the failure to cleave the aminopropeptide of type I pro...

Ho(K K),Kong(R Y),Kuffner(T),Hsu(L H),Ma(L... Hum Mutat 1994-10-10

...COL1A2 gene showed the presence of a T to C transition at position +2 of intron 6 in one allele and the proband is heter...

Three unrelated individuals with perinatally lethal osteogenesis imperfecta r...

Rose(N J),Mackay(K),De Paepe(A),Steinmann(... Hum Genet 1994-12-15

...COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In...

Further characterization of a somatic cell hybrid panel: ten new assignments ...

Guérin(G),Eggen(A),Vaiman(D),Nocart(M),Lau... Anim Genet 1994-05-13

...COL1A2, FAS, CTSB, CTSL, CHRNG, HEXB and HTR1A) and two by polymerase chain reaction (PCR) amplification (HRH1 and ETH11...

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping ...

Mottes(M),Sangalli(A),Valli(M),Forlino(A),... Hum Genet 1994-07-19

...COL1A2 introns 19 and 20 are reported.

Self-assembly of collagen I from a proband homozygous for a mutation that sub...

Romanic(A M),Spotila(L D),Adachi(E),Engel(... J Biol Chem 1994-05-19

...COL1A2 gene that substituted a serine codon for a glycine codon at position 661 of the alpha 2(I) chain. The procollagen...

Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of t...

Cohen-Solal(L),Zylberberg(L),Sangalli(A),G... J Biol Chem 1994-06-16

...COL1A2 gene, which converts glycine 700 to aspartic acid in the alpha 2I chain. This mutation caused the abolition of a ...

Transforming growth factor-beta stimulates alpha 2(I) collagen gene expressio...

Inagaki(Y),Truter(S),Ramirez(F) J Biol Chem 1994-06-16

...COL1A2) promoter by increasing the affinity of an Sp1-containing protein complex for its cognate DNA-binding site. Cell ...

[Osteoporosis in congenital disorders].

Tsuda(M),Sakiyama(T) Nihon Rinsho 1994-12-06

...COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, th...

Mutation analysis of coding sequences for type I procollagen in individuals w...

Spotila(L D),Colige(A),Sereda(L),Constanti... J Bone Miner Res 1994-10-06

...COL1A2 gene, we determined that all patients expressed both alleles of the COL1A2 gene. The 12 patients who were heteroz...

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA ...

DiMaio(M S),Barth(R),Koprivnikar(K E),Suss... Prenat Diagn 1993-11-23

...COL1A2) which encodes the alpha 2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutat...

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