Publications:

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Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences

Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI

Publication Date: 2021

Variant appearance in text: IDUA: 1598C>T; Pro533Leu

PubMed Link: 35141277

Variant Present in the following documents:

• Main text
• fmolb-08-783644.pdf

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs121965021

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI.

Diagnostics (Basel, Switzerland)

Tulebayeva, Assel A; Sharipova, Maira M; Boranbayeva, Riza R

Publication Date: 2020-01-24

Variant appearance in text: IDUA: 1598C>T

PubMed Link: 31991612

Variant Present in the following documents:

• Main text
• diagnostics-10-00063.pdf

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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.

Journal Of Clinical Laboratory Analysis

Taghikhani, Mohammad M; Khatami, Shohreh S; Abdi, Mohammad M; Hakhamaneshi, Mohammad Said MS; Alaei, Mohammad Reza MR; Zamanfar, Daniel D; Vakili, Rahim R

Publication Date: 2019-10

Variant appearance in text: IDUA: P533L; rs121965021

PubMed Link: 31386236

Variant Present in the following documents:

• Main text

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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: P533L; rs121965021

PubMed Link: 28676128

Variant Present in the following documents:

• Main text

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Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Genetic Testing And Molecular Biomarkers

Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM

Publication Date: 2016-06

Variant appearance in text: IDUA: P533L

PubMed Link: 27104957

Variant Present in the following documents:

• Main text

View BVdb publication page

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