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Redford-Badwal(D A),Stover(M L),Valli(M),M... J Clin Invest 1996-06-05

...COL1A2 genes yielding an abnormal collagen alpha chain. In contrast, many patients with mild OI show evidence of a null ...

Pepe(G),Bué(C),Orlandi(P),Meloni(G F),Modi... Hum Biol 1996-02-14

...COL1A2 (of type I collagen) microsatellite SSTR (degree of heterozygosity H = 0.72) by searching for linkage disequilibr...

Pepe(G),Rickards(O),Jodice(C),Modiano(G) Hum Biol 1996-02-14

...COL1A2 gene, one of the two genes that encode for the polypeptides of type I collagen, have been studied in four West Af...

Rose(N J),Mackay(K),Byers(P H),Dalgleish(R... Hum Genet 1995-03-20

...COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of ...

Lehmann(H W),Mundlos(S),Winterpacht(A),Bre... Arch Dermatol Res 1995-03-23

...COL1A2 revealed, in addition to the expected collagen sequence, a transcript missing the entire exon 6. This exon encode...

Pepe(G),Rickards(O),Bué(C),Martinez-Labarg... Hum Biol 1995-03-02

...COL1A2 gene were analyzed, using the polymerase chain reaction technique, for the first time in a native American popula...

Gomez-Lira(M),Sangalli(A),Pignatti(P F),Di... J Med Genet 1995-04-20

...COL1A2 gene, which led to a cysteine for glycine substitution at position 640 of the triple helical domain. This newly c...

Detera-Wadleigh(S D),Hsieh(W T),Berrettini... Am J Med Genet 1995-02-01

...COL1A2 and D7S78 showed no significance for linkage but for PLANH1, at the weighting functions f(p) = 1 and f(p) = 1/sqr...

Robertson(N G),Khetarpal(U),Gutiérrez-Espe... Genomics 1995-02-17

...COL1A2), collagen type II alpha-1 (COL2A1), collagen type III alpha-1 (COL3A1), spermidine/spermine N1-acetyltransferase...

Tamaki(T),Ohnishi(K),Hartl(C),LeRoy(E C),T... J Biol Chem 1995-04-05

...COL1A2) promoter, a series of deletion mutants from -323 to -186 base pairs was tested in transient transfection assays ...