PMC Links for OMIM (Select 120250) - PMC

Result Filters

Links from OMIM

Items: 5

Select item 44579511.

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto, Barbara Schormair, Aaro V. Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger, Hanns Lochmüller, Tim M. Strom, Bernhard Haslinger, Nicholas Katsanis, Juliane Winkelmann

Am J Hum Genet. 2015 Jun 4; 96(6): 883–893. doi: 10.1016/j.ajhg.2015.04.010

PMCID:: PMC4457951

Abstract Article PDF–1.0M

Select item 17360002.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A Lampe, D Dunn, A C von Niederhausern, C Hamil, A Aoyagi, S Laval, S Marie, M Chu, K Swoboda, F Muntoni, C Bonnemann, K Flanigan, K Bushby, R Weiss

J Med Genet. 2005 Feb; 42(2): 108–120. doi: 10.1136/jmg.2004.023754

PMCID:: PMC1736000

Summary PDF–164K

Select item 17151623.

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

D Weil, M G Mattei, E Passage, V C N'Guyen, D Pribula-Conway, K Mann, R Deutzmann, R Timpl, M L Chu

Am J Hum Genet. 1988 Mar; 42(3): 435–445.

PMCID:: PMC1715162

Summary Page Browse PDF–2.2M

Select item 5516784.

Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors.

M L Chu, R Z Zhang, T C Pan, D Stokes, D Conway, H J Kuo, R Glanville, U Mayer, K Mann, R Deutzmann, et al.

EMBO J. 1990 Feb; 9(2): 385–393. doi: 10.1002/j.1460-2075.1990.tb08122.x

PMCID:: PMC551678

Summary Page Browse PDF–1.7M

Select item 4199915.

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloglu, Bernard Echenne, Luciano Merlini, Pascale Guicheney

Am J Hum Genet. 2002 Jun; 70(6): 1446–1458. Published online 2002 Apr 24. doi: 10.1086/340608