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Segregation analysis of dominant osteogenesis imperfecta in Italy.

Mottes(M),Cugola(L),Cappello(N),Pignatti(P F) J Med Genet 1990-07-27

...COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two fam...

Linkage analysis of five fibrillar collagen loci in a large French Marfan syn...

Boileau(C),Jondeau(G),Bonaiti(C),Coulon(M)... J Med Genet 1990-05-07

...COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A sm...

Slot blot method for the quantification of DNA sequences and mapping of chrom...

Blouin(J L),Rahmani(Z),Chettouh(Z),Prieur(... Am J Hum Genet 1990-04-04

...COL1A1 and COL1A2) and two chromosome 21 (D21S11 and D21S17) probes. Among the 10 DNAs analyzed, it was possible to diag...

Consistent linkage of dominantly inherited osteogenesis imperfecta to the typ...

Sykes(B),Ogilvie(D),Wordsworth(P),Wallis(G... Am J Hum Genet 1990-03-12

The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 domin...

Variable expression of osteogenesis imperfecta in a nuclear family is explain...

Wallis(G A),Starman(B J),Zinn(A B),Byers(P H) Am J Hum Genet 1990-06-21

...COL1A1 alleles in fibroblasts, 27% of those in blood, and 37% of those in sperm. These findings demonstrate that the fat...

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen pre...

Willing(M C),Cohn(D H),Byers(P H) J Clin Invest 1990-02-14

...COL1A1 allele and another from which the intragenic Eco RI restriction site near the 3' end of the gene is missing. Ampl...

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected moth...

Constantinou(C D),Pack(M),Young(S B),Prock... Am J Hum Genet 1990-11-02

...COL1A1), a single base mutation that converted the codon for alpha 1-glycine 904 to a codon for cysteine. The mutation c...

Generation of collagenase-resistant collagen by site-directed mutagenesis of ...

Wu(H),Byrne(M H),Stacey(A),Goldring(M B),B... Proc Natl Acad Sci U S A 1990-09-04

...Col1a1) gene. These mutant constructs have been transfected into homozygous Mov13 fibroblasts that do not express the en...

Structure of the gene encoding the beta-subunit of chicken prolyl 4-hydroxylase.

Nakazawa(M),Aida(T),Everson(W V),Gonda(M A... Gene 1989-04-04

...COL1A1). These elements may interact with nuclear factors and play important roles in expression regulation of the beta-...

Cloning and analysis of the 5' portion of the human type-III procollagen gene...

Benson-Chanda(V),Su(M W),Weil(D),Chu(M L),... Gene 1989-10-18

...COL1A1 and COL1A2. Moreover, we have sequenced 1628 bp of the 5'-flanking region of COL3A1, from the transcription start...

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