Camacho Vanegas, O

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