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Article

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

17 Jun 2019

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 31209800
DOI: 10.1007/s11427-018-9545-3

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Research trail→

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Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndromePMID 31209800Read ↗

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.Semantic proximity Read ↗

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.Semantic proximity Read ↗

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Semantic proximity Read ↗

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.Semantic proximity Read ↗

A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case reportSemantic proximity Read ↗

Identification of Novel COL4A5 Variants and Prenatal Diagnosis in Three Large FamiliesSemantic proximity Read ↗

Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencingSemantic proximity Read ↗

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Semantic proximity Read ↗

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.Semantic proximity Read ↗

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

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