New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. [electronic resource]
Producer: 20030924Description: 355-69 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Base Sequence
- Child
- Collagen Type VI -- chemistry
- DNA, Complementary -- genetics
- Dimerization
- Exons
- Extracellular Matrix -- chemistry
- Fibroblasts -- chemistry
- Genes, Dominant
- Genotype
- Heterozygote
- Humans
- Introns
- Male
- Molecular Sequence Data
- Muscles -- metabolism
- Muscular Dystrophies -- congenital
- Phenotype
- Protein Structure, Tertiary
- RNA, Messenger -- genetics
- Sequence Deletion
- Sequence Homology, Nucleic Acid
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
There are no comments on this title.
Log in to your account to post a comment.