Publications:

Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.

Life (Basel, Switzerland)

Can, Ngoc Thi Bich NTB; Tran, Dien Minh DM; Bui, Thao Phuong TP; Nguyen, Khanh Ngoc KN; Nguyen, Hoang Huy HH; Nguyen, Tung Van TV; Hwu, Wuh-Liang WL; Tomatsu, Shunji S; Vu, Dung Chi DC

Publication Date: 2021-10-30

Variant appearance in text: IDUA: Asp349Asn

PubMed Link: 34833038

Variant Present in the following documents:

• Main text
• life-11-01162.pdf

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Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clinical Genetics

Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J

Publication Date: 2019-10

Variant appearance in text: IDUA: D349N

PubMed Link: 31194252

Variant Present in the following documents:

• Main text
• CGE-96-281.pdf

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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: D349N; rs368454909

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: D349N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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

Nature Chemical Biology

Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN

Publication Date: 2013-11

Variant appearance in text: IDUA: D349N

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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