Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. [electronic resource]
- Proceedings of the National Academy of Sciences of the United States of America Jun 2001
- 7516-21 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0027-8424
10.1073/pnas.121027598 doi
Base Sequence Biopsy Cells, Cultured Child Collagen--genetics Connective Tissue Diseases--blood Exons Female Fibroblasts--pathology Genes, Recessive Homozygote Humans Italy Male Muscle, Skeletal--pathology Muscular Dystrophies--blood Mutation Pedigree Point Mutation RNA, Messenger--chemistry Reverse Transcriptase Polymerase Chain Reaction Sequence Deletion Skin--pathology Syndrome White People