主页文献库搜索
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with m...

Superti-Furga(A),Raghunath(M),Pistone(F M)... Connect Tissue Res 1993-09-01

...COL1A2 mRNA. Genomic DNA analysis showed that both exons 21 of COL1A2 were intact, but nucleotides +2 to +40 in intron 2...

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a ...

Edwards(M J),Wenstrup(R J),Byers(P H),Cohn... Hum Mutat 1993-05-28

...COL1A2 gene which encodes the pro alpha 2(I) chain of type I procollagen. His dermal fibroblasts were previously shown t...

The abolition of collagen gene expression in SV40-transformed fibroblasts is ...

Parker(M I),Smith(A A),Mundell(K),Collins(... Nucleic Acids Res 1993-01-04

...COL1A2 promoter in the SVWI-38 cell line. Competition experiments with an excess of COL1A2 promoter DNA fragment and a c...

Partial isodisomy for maternal chromosome 7 and short stature in an individua...

Spotila(L D),Sereda(L),Prockop(D J) Am J Hum Genet 1993-01-14

...COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Pheno...

No evidence for involvement of type 1 collagen structural genes in 'genetic p...

Bashir(R),Day(C P),James(O F),Ogilvie(D J)... J Hepatol 1993-02-25

...COL1A2 and restriction site dimorphisms have been described at each locus. Genetic factors have been invoked as a basis ...

Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22.

Fox(M F),Lahbib(F),Pratt(W),Attwood(J),Gum... Ann Hum Genet 1993-02-26

...COL1A2 and CFTR.

Segregation of structural collagen genes in adolescent idiopathic scoliosis.

Carr(A J),Ogilvie(D J),Wordsworth(B P),Pri... Clin Orthop Relat Res 1992-02-12

...COL1A2) were found to be inherited independently of the abnormal phenotype. Two pedigrees were discordant at one of the ...

Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent pro...

Solberg(R),Sistonen(P),Träskelin(A L),Béru... Genomics 1992-12-22

...COL1A2,D7S79)-PRKAR2B-MET-D7S87++ +-TCRB-qter. Furthermore, in situ hybridization to metaphase chromosomes physically ma...

Nested polymerase chain reaction on cellular DNA in plasma: a rapid method to...

Christa(L),Zarski(J P),Nalpas(B),Augereau(... Hum Genet 1992-04-27

...COL1A2) gene in alcoholic subjects with and without liver disease, using the nested polymerase chain reaction to analyse...

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain a...

Knebelmann(B),Deschenes(G),Gros(F),Hors(M ... Am J Hum Genet 1992-07-23

...COL1A2 genes have been associated with many cases of osteogenesis imperfecta. This gly325-to-arg substitution presumably...

上一页 91 92 93 94 95 96 97 98 99 下一页 95 / 共 110

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话: 0531-88819269

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。


商务邮箱

E-mail: [email protected]