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Expression of human COL1A1 gene in stably transfected HT1080 cells: the produ...

Geddis(A E),Prockop(D J) Matrix 1994-01-03

...COL1A1-CMV) was prepared that contained the cDNA for the human COL1A1 gene under the transcriptional control of the prom...

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

...COL1A1, COL1A2, FAS, CTSB, CTSL, CHRNG, HEXB and HTR1A) and two by polymerase chain reaction (PCR) amplification (HRH1 a...

Genomic sequence of mouse COL1A1 encoding the collagen propeptides.

Fenton(S P),Lamande(S R),Hannagan(M),Stace... Biochim Biophys Acta 1994-02-03

...COL1A1 and the deduced amino acid sequences of the N- and C-propeptides showed 67% and 91% identity with the human seque...

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

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

...COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a...

Nuclear and cytoplasmic alpha 1 (I) collagen mRNA-binding proteins.

Määttä(A),Penttinen(R P) FEBS Lett 1994-04-04

...COL1A1 RNA [Määttä, A. and Penttinen, R.P.K. (1993) Biochem. J. 295, 691-698]. Now we report that a very similar protein...

Phenotypic variability and incomplete penetrance of spontaneous fractures in ...

Pereira(R),Halford(K),Sokolov(B P),Khillan... J Clin Invest 1994-05-20

...COL1A1) was bred to wild type mice of the same strain so that the inheritance of a fracture phenotype could be examined ...

Homology-mediated recombination between type I collagen gene exons results in...

Cohn(D H),Zhang(X),Byers(P H) Hum Mutat 1993-05-21

...COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta. The structure of the mu...

A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locu...

Pepe(G) Hum Mutat 1993-10-28

...COL1A1 and COL1A2) prenatal diagnosis becomes feasible in the majority of the affected families only if a very informati...

Osteogenesis imperfecta type III: mutations in the type I collagen structural...

Wallis(G A),Sykes(B),Byers(P H),Mathew(C G... J Med Genet 1993-08-10

Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, th...

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen cha...

Mackay(K),Lund(A M),Raghunath(M),Steinmann... Hum Genet 1993-07-28

...COL1A1. A heterozygous transversion of G to T within the last glycine codon of exon 32 was identified by DNA sequence an...

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