Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons
J Inherit Metab Dis
.
1996;19(1):93-4.
doi: 10.1007/BF01799358.
Authors
P Li
1
,
J N Thompson
Affiliation
1
Laboratory of Medical Genetics, University of Alabama at Birmingham 35294, USA.
PMID:
8830188
DOI:
10.1007/BF01799358
No abstract available
MeSH terms
Exons
Genome
Humans
Iduronate Sulfatase / genetics*
Mucopolysaccharidosis II / enzymology
Mucopolysaccharidosis II / genetics*
Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational*
Substances
Iduronate Sulfatase