TY  - GEN
AU  - Pan,Te-Cheng
AU  - Zhang,Rui-Zhu
AU  - Sudano,Dominick G
AU  - Marie,Suely K
AU  - Bönnemann,Carsten G
AU  - Chu,Mon-Li
TI  - New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
SN  - 0002-9297
PY  - 2003///0924
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child
KW  - Collagen Type VI
KW  - chemistry
KW  - DNA, Complementary
KW  - genetics
KW  - Dimerization
KW  - Exons
KW  - Extracellular Matrix
KW  - Fibroblasts
KW  - Genes, Dominant
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Introns
KW  - Male
KW  - Molecular Sequence Data
KW  - Muscles
KW  - metabolism
KW  - Muscular Dystrophies
KW  - congenital
KW  - Phenotype
KW  - Protein Structure, Tertiary
KW  - RNA, Messenger
KW  - Sequence Deletion
KW  - Sequence Homology, Nucleic Acid
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/377107
ER  -