The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen
Pathol Immunopathol Res
.
1988;7(1-2):104-6.
doi: 10.1159/000157103.
Authors
C A Francomano
1
,
R M Liberfarb
,
T Hirose
,
I H Maumenee
,
E A Streeten
,
D A Meyers
,
R E Pyeritz
Affiliation
1
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Md.
PMID:
3222200
DOI:
10.1159/000157103
No abstract available
MeSH terms
Collagen / classification
Collagen / genetics*
Connective Tissue Diseases / genetics*
Female
Genes
Genes, Dominant
Genetic Linkage
Humans
Male
Mutation
Pedigree
Restriction Mapping
Syndrome
Substances
Collagen