Pan, Te-Cheng <br/><br/>
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.  [electronic resource] 

 -  American journal of human genetics  Aug 2003 
 - 355-69 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/377107  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Collagen Type VI--chemistry<br/>DNA, Complementary--genetics<br/>Dimerization<br/>Exons<br/>Extracellular Matrix--chemistry<br/>Fibroblasts--chemistry<br/>Genes, Dominant<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Introns<br/>Male<br/>Molecular Sequence Data<br/>Muscles--metabolism<br/>Muscular Dystrophies--congenital<br/>Phenotype<br/>Protein Structure, Tertiary<br/>RNA, Messenger--genetics<br/>Sequence Deletion<br/>Sequence Homology, Nucleic Acid