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Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI)...

Pan(T C),Zhang(R Z),Pericak-Vance(M A),Tan... Hum Mol Genet 1998-08-26

...COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-codin...

CA repeat polymorphism of the COL6A3 gene on chromosome 2q37.

Pan(T C),Zhang(R Z),Speer(M C),Chu(M L) Hum Hered 1998-10-15

...COL6A3) located on chromosome 2q37. Analysis of 100 chromosomes in unrelated Caucasians has demonstrated the existence o...

Morphological classification of nuchal skin in human fetuses with trisomy 21,...

von Kaisenberg(C S),Krenn(V),Ludwig(M),Nic... Anat Embryol (Berl) 1998-04-09

...COL6A3 and COL1A1 between normal fetuses and those with trisomy 21. The ultrastructure of tissue samples was studied by ...

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

Speer(M C),Tandan(R),Rao(P N),Fries(T),Sta... Hum Mol Genet 1997-01-16

...COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy.

Deletion or triplication of the alpha 3 (VI) collagen gene in three patients ...

Rauch(A),Pfeiffer(R A),Trautmann(U) Clin Genet 1997-01-22

...COL6A3 and PAX3 genes mapped in 2q37.3 and 2q36, respectively. While the PAX3 gene dosage appeared unaffected, the COL6A...

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopath...

Jöbsis(G J),Keizers(H),Vreijling(J P),de V... Nat Genet 1996-10-24

...COL6A3 (ref. 5). Sequence analysis in four families reveals a mutation in COL6A1 in one and a COL6A2 mutation in two oth...

An RFLP map for 2q33-q37 from multicase mycobacterial and leishmanial disease...

Shaw(M A),Atkinson(S),Dockrell(H),Hussain(... Ann Hum Genet 1994-06-06

...COL6A3 where LOD = 6.02), the map is consistent with the gene order for those loci (Cryg, Fn-1, Tp-1, Vil, Des, Col6a3) ...

Segregation analysis of collagen genes in two families with joint hypermobili...

Henney(A M),Brotherton(D H),Child(A H),Hum... Br J Rheumatol 1992-04-07

...COL6A3) unambiguously in both families. The simultaneous exclusion of both the type 1 alpha 1 and alpha 2 chain genes in...

Mapping of the human VLA-alpha 4 gene to chromosome 2q31-q32.

Fernández-Ruiz(E),Pardo-Manuel de Villena(... Eur J Immunol 1992-04-01

...COL6A3 linkage group and establishes a potential genetic relationship between the alpha 4 and alpha v integrin subunits.

Identification and mapping of six microdissected genomic DNA probes to the pr...

Vidal(S M),Epstein(D J),Malo(D),Weith(A),V... Genomics 1992-12-22

...Col6a3-1.8 cM-lambda Mm1C-150-15.4 cM-Ren1,2. Four of these probes map within a chromosome 1 segment that is homologous ...

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