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Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutatio...

Asher(J H),Morell(R),Friedman(T B) Am J Hum Genet 1991-02-05

...COL6A3 (collagen VI, alpha 3). For the RFLP marker loci, a multilocus linkage analysis using MLINK produced a peak lod (...

Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conse...

Schurr(E),Skamene(E),Morgan(K),Chu(M L),Gr... Genomics 1991-03-25

...COL6A3/Col6a3. Ren-1,2 and Acrg were included as two proximal mouse chromosome 1 anchor loci. The segregation of restric...

Marfan syndrome: exclusion of genetic linkage to five genes coding for connec...

Kainulainen(K),Savolainen(A),Palotie(A),Ka... Hum Genet 1990-03-22

...COL6A3. Furthermore, genes for elastin (ELN) and fibronectin (FN) are also located in this area of chromosome 2. We stud...

The clinical phenotype of early-onset isolated dystonia caused by recessive C...

Jochim(Angela),Zech(Michael),Gora-Stahlber... Mov Disord 0000-00-00

...COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape.,Biallelic COL6A...

The role of mutations in COL6A3 in isolated dystonia.

Lohmann(Katja),Schlicht(Felix),Svetel(Mari... J Neurol 0000-00-00

...COL6A3 mutations since disease severity or age at onset did not correlate with the number of COL6A3 mutated alleles in t...

Identification of key genes associated with gastric cancer based on DNA micro...

Sun(Hui) Oncol Lett 0000-00-00

...COL6A3), COL1A2, COL1A1, COL5A2, thrombospondin 2, COL11A1 and COL5A1. Overall, the present study identified several bio...

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of Hig...

Domingo(Aloysius),Erro(Roberto),Lohmann(Ka... Mov Disord 0000-00-00

...COL6A3 (collagen VI alpha 3). These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also...

Overexpression of collagen VI α3 in gastric cancer.

Xie(Xiaojun),Liu(Xiaosun),Zhang(Qing),Yu(J... Oncol Lett 0000-00-00

...COL6A3 co-expression network. Therefore, COL6A3 may act as an oncogene in human GC and the antagonism of COL6A3 may be a...

Reduced expression of collagen VI alpha 3 (COL6A3) confers resistance to infl...

Gesta(Stephane),Guntur(Kalyani),Majumdar(I... Obesity (Silver Spring) 0000-00-00

...COL6A3) is associated with insulin resistance and adipose tissue inflammation. In this study, the role of COL6A3 in huma...

Improved diagnostic yield of neuromuscular disorders applying clinical exome ...

Fattahi(Z),Kalhor(Z),Fadaee(M),Vazehan(R),... Clin Genet 0000-00-00

...Col6A3, DMD, DYSF, FHL1, GJB1, ISPD, LAMA2, LMNA, PLEC1, RYR1, SGCA, SGCB, SYNE1, TNNT1 and 22 novel pathogenic variants...

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