scholarly article | Q13442814 |
P356 | DOI | 10.1007/S10545-006-0403-Z |
P698 | PubMed publication ID | 17063374 |
P50 | author | Maria João Prata | Q30430382 |
Sandra Alves | Q50673886 | ||
Lacerda L | Q59040589 | ||
P2093 | author name string | L Lopes | |
H Ribeiro | |||
J Pinto-Basto | |||
M Reis Lima | |||
G Ribeiro | |||
M Mangas | |||
P2860 | cites work | Mucopolysaccharidosis type II--genotype/phenotype aspects | Q78942670 |
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A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA | Q28276200 | ||
Hunter disease in the Spanish population: molecular analysis in 31 families | Q28284619 | ||
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Quality control of mRNA function | Q34156109 | ||
Molecular and phenotypic variation in patients with severe Hunter syndrome | Q34425812 | ||
Prevalence of lysosomal storage diseases in Portugal | Q34544060 | ||
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 mutations | Q38520782 | ||
Silencer elements as possible inhibitors of pseudoexon splicing | Q40773292 | ||
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths | Q42616265 | ||
Sequence of the human iduronate 2-sulfatase (IDS) gene | Q45345306 | ||
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 method | Q48142305 | ||
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations | Q48335725 | ||
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals | Q48531006 | ||
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients | Q50335678 | ||
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 inversions | Q73205338 | ||
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II | Q77510799 | ||
P433 | issue | 6 | |
P304 | page(s) | 743-754 | |
P577 | publication date | 2006-10-25 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations | |
P478 | volume | 29 |