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Genetic and Phenotypic Overview of Mutations in <i>COL4A1</i> and <i>COL4A2</i>: Insights from a French Cohort

<b>Introduction:</b> Type IV collagen, predominantly composed of the <i>COL4A1</i> and <i>COL4A2</i> genes, is a crucial component of the basement membrane, essential for maintaining vascular integrity [...]

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hélène Morel, Thibault Coste, Stéphanie Guey, Dominique Hervé, Elisabeth Tournier-Lasserve
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI AG 2025-07-01
Cyfres:Proceedings
Pynciau:
Mynediad Ar-lein:https://www.mdpi.com/2504-3900/120/1/6
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!