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GALC mutational analysis.

Figshare2018-02-27 更新2026-04-29 收录

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2018-02-27

Identification of a new X-linked COL4A5 gene mutation in Alport syndrome accompanied by IgA Nephropathy from a Chinese family

NIAID Data Ecosystem60

Additional file 3: Table S1. Sanger Sequencing HepG2. Results of genotyping WT HepG2 cells and four MCAD-knockouts.

Figshare2023-11-19 更新50

Diagnostic delay of patients with specifc lysosomal storage diseases.

NIAID Data Ecosystem30

SNPs that are homozygous in both affected siblings and heterozygous or absent in the unaffected sibling. (DOC)

Figshare2015-12-02 更新50

Genetic mutations in the VWD patients studied.

Figshare2016-08-18 更新40