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Die Reise vom Phaenotyp zum Genotyp : ein Blick hinter die Kulissen einer monogenen Form der Hypertonie [From phenotype to genotype : a glimpse behind the scenes of an unending story]

Item Type:Article
Title:Die Reise vom Phaenotyp zum Genotyp : ein Blick hinter die Kulissen einer monogenen Form der Hypertonie [From phenotype to genotype : a glimpse behind the scenes of an unending story]
Creators Name:Schuster, H. and Bähring, S. and Wienker, T.F. and Luft, F.C.
Abstract:Mendelian conditions direct attention at basic mechanisms. In the 1990's DNA sequencing allowed elucidating such conditions. We embarked on an unexpected adventure to study a monogenic autosomal-dominant form of hypertension causing also a specific form of short fingers. The gene locus caused a 50 mmHg increase in blood pressure at age of 50. Our clinically based group stumbled to the finish line after 20 years of study. We remained together and proudly persevered. Our findings could be relevant for essential hypertension.
Keywords:DNA Sequence Analysis, Genotype, Genotyping Techniques, Hypertension, Phenotype
Source:Deutsche Medizinische Wochenschrift
ISSN:0012-0472
Publisher:Thieme (Germany)
Volume:140
Number:25
Page Range:1920-1923
Date:December 2015
Official Publication:https://doi.org/10.1055/s-0041-107586
PubMed:View item in PubMed

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