New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Pan, Te-Cheng
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
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/377107 doi
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
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
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/377107 doi
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