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Article

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2007

Bi Hongyan, Gao Yunying, Yao Sheng, Dong Mingrui, Headley Alexander Peter, Yuan Yun

Abstract excerpt

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families...

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Source

Identifiers

PMID: 18018475
DOI: 10.1111/j.1440-1789.2007.00808.x

Genes

SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.PMID 18018475Read ↗

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