IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

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IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

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Item

label

IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

@en

IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

@nl

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IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

@en

IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

@nl

P1476

IDUA mutational profile and ge ...... Mucopolysaccharidosis Type I.

@en

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Clare E Beesley

http://www.w3.org/2001/XMLSchema#string

Heather Church

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Jean Mercer

http://www.w3.org/2001/XMLSchema#string

Karen Tylee

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Wyatt W Yue

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P2860

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

A method and server for predicting damaging missense mutations

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.

The natural history of MPS I: global perspectives from the MPS I Registry.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

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1555-1568

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scholarly article

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10.1002/HUMU.23301

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P478

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2017-07-28T00:00:00Z

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28752568

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