TY  - GEN
AU  - Schwarze,U
AU  - Schievink,W I
AU  - Petty,E
AU  - Jaff,M R
AU  - Babovic-Vuksanovic,D
AU  - Cherry,K J
AU  - Pepin,M
AU  - Byers,P H
TI  - Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
SN  - 0002-9297
PY  - 2001///1207
KW  - Alleles
KW  - Base Sequence
KW  - Blotting, Western
KW  - Cell Nucleus
KW  - genetics
KW  - Cells, Cultured
KW  - Codon, Nonsense
KW  - Collagen
KW  - chemistry
KW  - Collagen Type III
KW  - Cytoplasm
KW  - DNA Mutational Analysis
KW  - Ehlers-Danlos Syndrome
KW  - classification
KW  - Exons
KW  - Fibroblasts
KW  - Frameshift Mutation
KW  - Genes, Dominant
KW  - Heterozygote
KW  - Humans
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Procollagen
KW  - Protein Structure, Quaternary
KW  - RNA Precursors
KW  - RNA Stability
KW  - RNA, Messenger
N1  - Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/324123
ER  -