Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

scientific article published on 25 October 2006

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S10545-006-0403-Z
P698PubMed publication ID17063374

P50authorMaria João PrataQ30430382
Sandra AlvesQ50673886
Lacerda LQ59040589
P2093author name stringL Lopes
H Ribeiro
J Pinto-Basto
M Reis Lima
G Ribeiro
M Mangas
P2860cites workMucopolysaccharidosis type II--genotype/phenotype aspectsQ78942670
Prediction of complete gene structures in human genomic DNAQ27860780
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNAQ28276200
Hunter disease in the Spanish population: molecular analysis in 31 familiesQ28284619
Understanding alternative splicing: towards a cellular codeQ29615085
ESEfinder: A web resource to identify exonic splicing enhancersQ29616126
Pre-mRNA splicing and human diseaseQ29617335
Listening to silence and understanding nonsense: exonic mutations that affect splicingQ29618493
Quality control of mRNA functionQ34156109
Molecular and phenotypic variation in patients with severe Hunter syndromeQ34425812
Prevalence of lysosomal storage diseases in PortugalQ34544060
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).Q35571022
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutationsQ38520782
Silencer elements as possible inhibitors of pseudoexon splicingQ40773292
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengthsQ42616265
Sequence of the human iduronate 2-sulfatase (IDS) geneQ45345306
Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.Q48052109
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodQ48142305
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutationsQ48335725
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signalsQ48531006
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsQ50335678
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.Q54498470
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversionsQ73205338
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type IIQ77510799
P433issue6
P304page(s)743-754
P577publication date2006-10-25
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleMolecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations
P478volume29