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Article

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.

Human molecular genetics - 1 Dec 2012

Dietrich Paula, Alli Shanta, Shanmugasundaram Revathi, Dragatsis Ioannis

Abstract excerpt

Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of the sensory and...

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Identifiers

PMID: 22922231
DOI: 10.1093/hmg/dds354
PMCID: PMC3490515

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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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