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Article

Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Nov 2021

Shang Ty, Pinho Marco, Ray Debarti, Khera Alka

Abstract excerpt

OBJECTIVE: To describe and compare two cases of North American and African patients who were diagnosed with HTRA1-related cerebral small vessel disease (CSVD) with homozygous and heterozygous mutations, respectively, in the linker domain of the HTRA1 gene. MATERIALS AND METHODS: Case reports and literature review. RESULTS: A 49-year-old man from Mexico presented with recurrent lacunar strokes and memory loss. A...

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Identifiers

PMID: 34461444
DOI: 10.1016/j.jstrokecerebrovasdis.2021.106029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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