(Q48083893)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

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

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

Maria João Prata

3

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

object named as

L Lacerda

9

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object named as

S Alves

1

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author name string

M Mangas

2

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

G Ribeiro

4

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

L Lopes

5

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

H Ribeiro

6

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

J Pinto-Basto

7

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

M Reis Lima

8

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

publication date

25 October 2006

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

29

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

6

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

743-754

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

https://scigraph.springernature.com/pub.10.1007/s10545-006-0403-z

0 references

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pre-mRNA splicing and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Understanding alternative splicing: towards a cellular code

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis type II--genotype/phenotype aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of lysosomal storage diseases in Portugal

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quality control of mRNA function

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and phenotypic variation in patients with severe Hunter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prediction of complete gene structures in human genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence of the human iduronate 2-sulfatase (IDS) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hunter disease in the Spanish population: molecular analysis in 31 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17063374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-006-0403-Z

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/17063374

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