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A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. A...

Byers(P H),Starman(B J),Cohn(D H),Horwitz(... J Biol Chem 1988-06-29

...COL1A1). These cells synthesize normal type I procollagen molecules as well as molecules that contain one or two mutant ...

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic lin...

Upadhyaya(M),Sarfarazi(M),Huson(S M),Steph... Genomics 1988-06-16

...COL1A1 loci may also be closely linked, but the data are limited. The results for HOX2 and NGFR suggest only loose linka...

Homozygous osteogenesis imperfecta unlinked to collagen I genes.

Aitchison(K),Ogilvie(D),Honeyman(M),Thomps... Hum Genet 1988-04-18

...COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.

Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inh...

Tsipouras(P),Schwartz(R C),Goldberg(J D),B... J Med Genet 1987-09-11

...COL1A1 genes of type I collagen. In a family with OI type IV genetically linked to the COL1A2 gene, we attempted prenata...

Osteogenesis imperfecta is linked to both type I collagen structural genes.

Sykes(B),Ogilvie(D),Wordsworth(P),Anderson... Lancet 1986-08-11

...COL1A1 and COL1A2 was analysed in eleven osteogenesis imperfecta pedigrees by means of restriction-site variants at, or ...

Lethal osteogenesis imperfecta resulting from a single nucleotide change in o...

Cohn(D H),Byers(P H),Steinmann(B),Gelinas(... Proc Natl Acad Sci U S A 1986-09-25

...COL1A1) that results in lethal (type II) osteogenesis imperfecta. The mutation is a single base change that results in a...

Chromosomal assignments of the genes coding for human types II, III, and IV c...

Solomon(E),Hiorns(L R),Spurr(N),Kurkinen(M... Proc Natl Acad Sci U S A 1985-06-25

...COL1A1 and COL2A1, have been mapped previously to chromosomes 17 and 7, respectively. This family of conserved genes see...

Conservation of the human COL1A1-TK-GAA synteny and homoeologous assignment i...

Créau-Goldberg(N),Turleau(C),Cochet(C),Hue... Hum Genet 1985-02-07

The pro alpha 1 (I) collagen structural gene (COL1A1), the acid alpha-glucosidase (GAA), and the thymidine kinase (TK) g...

Confirmation that the type I collagen gene on chromosome 17 is COL1A1 (alpha ...

Solomon(E),Hiorns(L),Sheer(D),Rowe(D) Ann Hum Genet 1984-05-02

...COL1A1) has been used as a probe on restriction digests of DNA from human-mouse somatic cell hybrids. Positive results o...

MBP-1 upregulates miR-29b that represses Mcl-1, collagens, and matrix-metallo...

Steele(Robert),Mott(Justin L),Ray(Ratna B) Genes Cancer 0000-00-00

...COL1A1, and COL4A1. Further, a novel target with potential implications for invasion and metastasis, matrix metallopepti...

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