Publications:

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: D315Y

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IDUA: D315Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases

Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N

Publication Date: 2013-07-09

Variant appearance in text: IDUA: D315Y

PubMed Link: 23837464

Variant Present in the following documents:

• Main text
• 1750-1172-8-99.pdf

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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

American Journal Of Medical Genetics. Part A

Vazna, Alzbeta A; Beesley, Clare C; Berna, Linda L; Stolnaja, Larisa L; Myskova, Helena H; Bouckova, Michaela M; Vlaskova, Hana H; Poupetova, Helena H; Zeman, Jiri J; Magner, Martin M; Hlavata, Anna A; Winchester, Bryan B; Hrebicek, Martin M; Dvorakova, Lenka L

Publication Date: 2009-05

Variant appearance in text: IDUA: 943G>T; D315Y

PubMed Link: 19396826

Variant Present in the following documents:

• Main text
• ajmg0149A-0965.pdf

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