Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain-Reference-Cited by-同舟云学术

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Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

Published:2010-09-03 Issue:10 Volume:152A Page:2550-2555
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Plaisier Emmanuelle,Chen Zhiyong,Gekeler Florian,Benhassine Safa,Dahan Karine,Marro Béatrice,Alamowitch Sonia,Paques Michel,Ronco Pierre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome;Alamowitch;Neurology,2009

2. COL4A1 mutation in preterm intraventricular hemorrhage;Bilguvar;J Pediatr,2009

3. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly;Breedveld;J Med Genet,2006

4. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage;De Vries;Ann Neurol,2009

5. The a1b1 integrin recognition site of basement membrane collagen molecule [a1(IV)2 a2(IV)];Eble;EMBO J,1993

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1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

2. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01

3. A recombinant technique for mapping functional sites of heterotrimeric collagen helices: Collagen IV CB3 fragment as a prototype for integrin binding;Journal of Biological Chemistry;2023-07

4. Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutation;Microvascular Research;2023-01

5. Alport Syndrome and Other Type IV Collagen Disorders;Pediatric Kidney Disease;2023

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