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Article

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

American journal of human genetics - 1 May 1991

Jones L A, Skare J C, Harding J A, Cohen A S, Milunsky A, Skinner M

Abstract excerpt

Familial amyloidotic polyneuropathy (FAP) is associated with the deposition of an abnormal transthyretin (TTR) molecule. We have studied DNA from a family of Greek descent with FAP. The proband's TTR gene was asymmetrically amplified by using PCR and then was sequenced directly, to reveal a cytosine-for-guanine substitution in codon 36. This substitution removes a recognition site for endonuclease Fnu4HI....

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Source

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Identifiers

PMID: 1850191
PMCID: PMC1683065

Genes

TTR
FAP

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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Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.PMID 1850191Read ↗

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