Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Mucopolysaccharidosis I and IDUA[original query] |
---|
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population. Annales de génétique 0 46 (1): 7-10. Gallegos-Arreola M P, Arnaud-López L, Figuera L E, Beltrán Jaramillo T S, Rangel-Villalobos H, Thomatsu Sunji, Zúñiga-González G |
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. Genetics in medicine : official journal of the American College of Medical Genetics 2003 1 4 (6): 420-6. Li Peining, Wood Tim, Thompson Jerry |
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. Turkish journal of medical sciences 2016 46 (2): 404-8. Atçeken Nazente, Özgül R?za Köksal, Yücel Yilmaz Didem, Tokatli Ay?egül, Co?kun Turgay, Sivri Hatice Serap, Dursun Ali, Karaca Mehm |
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. Diagnostic pathology 2018 5 13 (1): 35. Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandri |
Worldwide distribution of common IDUA pathogenic variants. Clinical genetics 2018 2 94 (1): 95-102. Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo |
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. Genetic testing and molecular biomarkers 2019 7 23 (8): 515-522. Kamranjam Mana, Alaei Mohammadre |
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clinical genetics 2019 6 96 (4): 281-289. Clarke Lorne A, Giugliani Roberto, Guffon Nathalie, Jones Simon A, Keenan Hillary A, Munoz-Rojas Maria V, Okuyama Torayuki, Viskochil David, Whitley Chester B, Wijburg Frits A, Muenzer Jose |
Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. Life (Basel, Switzerland) 2021 11 11 (11): . Can Ngoc Thi Bich, Tran Dien Minh, Bui Thao Phuong, Nguyen Khanh Ngoc, Nguyen Hoang Huy, Nguyen Tung Van, Hwu Wuh-Liang, Tomatsu Shunji, Vu Dung C |
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments. PloS one 2022 1 17 (1): e0262299. Carneiro Paola, de Freitas Martiela Vaz, Matte Ursu |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 20, 2024
- Content source: