TY  - GEN
AU  - Camacho Vanegas,O
AU  - Bertini,E
AU  - Zhang,R Z
AU  - Petrini,S
AU  - Minosse,C
AU  - Sabatelli,P
AU  - Giusti,B
AU  - Chu,M L
AU  - Pepe,G
TI  - Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
SN  - 0027-8424
PY  - 2001///0726
KW  - Base Sequence
KW  - Biopsy
KW  - Cells, Cultured
KW  - Child
KW  - Collagen
KW  - genetics
KW  - Connective Tissue Diseases
KW  - blood
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - pathology
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Italy
KW  - Male
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Pedigree
KW  - Point Mutation
KW  - RNA, Messenger
KW  - chemistry
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Sequence Deletion
KW  - Skin
KW  - Syndrome
KW  - White People
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1073/pnas.121027598
ER  -