Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations
J Inherit Metab Dis
.
2001 Feb;24(1):83-4.
doi: 10.1023/a:1005627311402.
Authors
M J Coll
1
,
C Antón
,
A Chabás
Affiliation
1
Institut de Bioquímica Clínica., Corporació Sanitària, Barcelona, Spain. mjcoll@clinic.ub.es
PMID:
11286389
DOI:
10.1023/a:1005627311402
No abstract available
MeSH terms
Alleles
DNA Mutational Analysis
Genetic Heterogeneity
Molecular Sequence Data
Mucopolysaccharidosis III / genetics*
Mutation*
Spain
Associated data
GENBANK/U43572