Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.

doi:10.1530/eje.0.1390410

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Article

Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.

European journal of endocrinology - 1 Oct 1998

Karga H J, Karayianni M K, Linos D A, Tseleni S C, Karaiskos K D, Papapetrou P D

Abstract excerpt

The RET proto-oncogene has been identified as the multiple endocrine neoplasia type 2 disease gene. An association between specific RET mutation and disease phenotype has been reported. We present the phenotype-genotype of 12 Greek families with multiple endocrine neoplasia type 2A (MEN 2A) or fa...

Topics

Adolescent
Adult
Aged
Carcinoma, Medullary
Child
DNA Mutational Analysis
Female
Genetic Carrier Screening
Genotype
Germ-Line Mutation
Greece
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Multiple Endocrine Neoplasia Type 2a

Phenotype

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Source

Open in PubMed

Identifiers

PMID: 9820617
DOI: 10.1530/eje.0.1390410

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9820617-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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