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Ehlers-Danlos syndrome type VII: phenotype and genotype.

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...

EcoRI, RsaI, and MspI RFLPs of the COL1A2 gene (type I collagen) in the Cayap...

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...

Isolation of novel and known genes from a human fetal cochlear cDNA library u...

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...

Genetic linkage mapping for a susceptibility locus to bipolar illness: chromo...

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...

Stable oncogenic transformation induced by microcell-mediated gene transfer.

Lü(Y),Blair(D G) Sci China B 1995-07-27

...col1A2, pJ3.11) mapping up to 1 Mb away from met shows that the cells from the individual foci contain different amounts...

Reverse transcription-polymerase chain reaction detection of collagen transcr...

Hopkinson(I),Evans(W),Chant(D),Hiscox(S),B... Eur J Clin Invest 1995-11-13

The aim of this study was to analyse the expression of COl1A1, COl1A2 and COl3A1 in 6 mm diameter punch biopsies obtaine...

Determination of a new collagen type I alpha 2 gene point mutation which caus...

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...

Characterization of a GC-rich region containing Sp1 binding site(s) as a cons...

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 ...

Type I procollagen COOH-terminal proteinase enhancer protein: identification,...

Takahara(K),Kessler(E),Biniaminov(L),Bruse... J Biol Chem 1994-11-22

...COL1A2.

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a ba...

Carr(A J),Chiodo(A A),Hilton(J M),Chow(C W... J Med Genet 1994-09-29

...COL1A2 allele, were studied. Her dermal type I collagen contained alpha 2(I) chains and mutant pN-alpha 2(I) chains in w...

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