Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.

doi:10.1007/BF03347719

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Article

Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.

Journal of endocrinological investigation - 1 Mar 1994

Ceccherini I, Romei C, Barone V, Pacini F, Martino E, Loviselli A, Pinchera A, Romeo G

Abstract excerpt

Following the recent identification of specific germline mutations of the RET proto-oncogene in Multiple Endocrine Neoplasia type 2A (MEN2A) patients, we looked for mutations of this gene in a pedigree showing recurrence of MEN2A and localized Cutaneous Lichen Amyloidosis (CLA). Basal calcitonin...

Topics

Amyloidosis
Base Sequence
Cysteine
Exons
Genetic Carrier Screening
Humans
Lichen Planus
Molecular Sequence Data
Multiple Endocrine Neoplasia
Mutation
Pedigree
Polymerase Chain Reaction
Proto-Oncogene Mas
Proto-Oncogenes
Tyrosine

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Open in PubMed

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PMID: 7914213
DOI: 10.1007/BF03347719

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7914213-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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