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

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 cyt...

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Bibliografiske detaljer
Main Authors: Jones, L A, Skare, J C, Harding, J A, Cohen, A S, Milunsky, A, Skinner, M
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683065/
https://ncbi.nlm.nih.gov/pubmed/1850191
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