TY  - GEN
AU  - Pace,Rishika A
AU  - Peat,Rachel A
AU  - Baker,Naomi L
AU  - Zamurs,Laura
AU  - Mörgelin,Matthias
AU  - Irving,Melita
AU  - Adams,Naomi E
AU  - Bateman,John F
AU  - Mowat,David
AU  - Smith,Nicholas J C
AU  - Lamont,Phillipa J
AU  - Moore,Steven A
AU  - Mathews,Katherine D
AU  - North,Kathryn N
AU  - Lamandé,Shireen R
TI  - Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
SN  - 1531-8249
PY  - 2008///1113
KW  - Amino Acid Sequence
KW  - genetics
KW  - Cells, Cultured
KW  - Collagen Diseases
KW  - Collagen Type VI
KW  - biosynthesis
KW  - Connective Tissue
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Extracellular Matrix
KW  - Fibroblasts
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Glycine
KW  - Humans
KW  - Male
KW  - Microscopy, Electron, Transmission
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Protein Structure, Tertiary
KW  - RNA, Messenger
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ana.21439
ER  -