Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. [electronic resource]
Producer: 20010726Description: 7516-21 p. digitalISSN:- 0027-8424
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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