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Article

Mutation burden profile in familial Alzheimer's disease cases from India.

Neurobiology of aging - 1 Apr 2018

Syama Adhikarla, Sen Somdatta, Kota Lakshmi Narayanan, Viswanath Biju, Purushottam Meera, Varghese Mathew, Jain Sanjeev, Panicker Mitradas M, Mukherjee Odity

Abstract excerpt

This study attempts to identify coding risk variants in genes previously implicated in Alzheimer's disease (AD) pathways, through whole-exome sequencing of subjects (N = 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified...

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Source

Identifiers

PMID: 29329714
DOI: 10.1016/j.neurobiolaging.2017.12.002

Genes

PLAT
PSEN1
SORL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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