Replication data for: "Molecular profile of Mucopolysaccharidosis type I patients in Brazil"

Name: Replication data for: "Molecular profile of Mucopolysaccharidosis type I patients in Brazil"
Creator: Deposita Dados Ibict
Published: 2026-01-09 12:30:37
License: 暂无描述

DataCite Commons2026-01-09 更新2026-05-04 收录

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https://depositadados.ibict.br/citation?persistentId=doi:10.48472/deposita/T9FGY3

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资源简介：

This dataset contains clinical information and biochemical and molecular diagnostic data from anonymized Brazilian patients with Mucopolysaccharidosis type I (MPS I), diagnosed between 2000 and 2022 within the scope of the Brazilian MPS Network. In this study, we performed molecular analysis on 119 MPS I patients, representing the largest Brazilian cohort studied so far. Forty-seven different mutations were identified in our sample, and 13 of them are newly described: c.48delG, c.78delC, c.159-23_159-1del23, p.Gln125Ter, p.Trp175Ter, c.590-6ins4G, c.763delC, c.973-1G>A, p.Asp349Glu, p.Asn350Lys, p.Lys384Asn, c.1403-12_1403-4del9 and p.Lys546Ter.

提供机构：

Deposita Dados Ibict

创建时间：

2026-01-08