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Article

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.

JAMA neurology - 1 Oct 2013

Ghani Mahdi, Sato Christine, Lee Joseph H, Reitz Christiane, Moreno Danielle, Mayeux Richard, St George-Hyslop Peter, Rogaeva Ekaterina

Abstract excerpt

IMPORTANCE The search for novel Alzheimer disease (AD) genes or pathologic mutations within known AD loci is ongoing. The development of array technologies has helped to identify rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are identical. Caribbe...

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Source

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Identifiers

PMID: 23978990
DOI: 10.1001/jamaneurol.2013.3545
PMCID: PMC3991012

Genes

EMP1
CTNNA3
EMP2
EXOC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23978990-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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