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Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings


Ott, J; Caesar, J; Mächler, Marco; Schinzel, Albert; Schmid, Werner (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40(5):305-307.

Abstract

An unusual one-generation family with myotonic dystrophy is presented, in which genetic counseling was successfully carried out. The probability of an informative result, before marker typing, is analytically derived and amounts to at least 40%.

Abstract

An unusual one-generation family with myotonic dystrophy is presented, in which genetic counseling was successfully carried out. The probability of an informative result, before marker typing, is analytically derived and amounts to at least 40%.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:1 January 1990
Deposited On:27 Jan 2023 16:24
Last Modified:28 Apr 2024 01:47
Publisher:Karger
ISSN:0001-5652
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000153950
PubMed ID:2265856
Other Identification Number:Corpus ID: 46870469
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