Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation

Objective: The existence of genotype–phenotype correlation in multiple endocrine neoplasia type 1 (MEN1) is controversial. Two founder mutations of the MEN1 gene in Northern Finland gave us an opportunity to compare clinical features among heterozygotes of different mutations. Design and methods: St...

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Veröffentlicht in:	European journal of endocrinology 2007-09, Vol.157 (3), p.285-294
Hauptverfasser:	Vierimaa, O, Ebeling, T M L, Kytölä, S, Bloigu, R, Eloranta, E, Salmi, J, Korpi-Hyövälti, E, Niskanen, L, Orvola, A, Elovaara, E, Gynther, A, Sane, T, Välimäki, M, Ignatius, J, Leisti, J, Salmela, P I
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adrenal Gland Neoplasms - genetics Adrenal Gland Neoplasms - mortality Adult Aged Biological and medical sciences Carcinoma, Neuroendocrine - genetics Carcinoma, Neuroendocrine - mortality Child Clinical Studies Codon, Nonsense Endocrinopathies Female Finland - epidemiology Founder Effect Frameshift Mutation Fundamental and applied biological sciences. Psychology Gastrointestinal Neoplasms - genetics Gastrointestinal Neoplasms - mortality General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes Genotype Humans Hyperparathyroidism, Primary - genetics Hyperparathyroidism, Primary - mortality Male Medical sciences Middle Aged Multiple Endocrine Neoplasia Type 1 - genetics Multiple Endocrine Neoplasia Type 1 - mortality Mutation, Missense Pancreatic Neoplasms - genetics Pancreatic Neoplasms - mortality Phenotype Pituitary Neoplasms - genetics Pituitary Neoplasms - mortality Proto-Oncogene Proteins - genetics Risk Factors Vertebrates: endocrinology
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