Publication:

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

Date

Date

Date
1990
Journal Article
Published version

Citations

Citation copied

Ott, J., Caesar, J., Mächler, M., Schinzel, A., & Schmid, W. (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40, 305–307. https://doi.org/10.1159/000153950

Abstract

Abstract

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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46 since deposited on 2023-01-27
45last week
Acq. date: 2025-11-13

Additional indexing

Creators (Authors)

  • Ott, J
    affiliation.icon.alt
  • Caesar, J
    affiliation.icon.alt
  • Mächler, Marco
    affiliation.icon.alt
  • Schinzel, Albert
    affiliation.icon.alt
  • Schmid, Werner
    affiliation.icon.alt

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
40

Number

Number

Number
5

Page range/Item number

Page range/Item number

Page range/Item number
305

Page end

Page end

Page end
307

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Genetics (clinical), Genetics

Language

Language

Language
English

Publication date

Publication date

Publication date
1990-01-01

Date available

Date available

Date available
2023-01-27

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0001-5652

OA Status

OA Status

OA Status
Closed

Free Access at

Free Access at

Free Access at
Unspecified

PubMed ID

PubMed ID

PubMed ID

Other Identification Number

Other Identification Number

Other Identification Number
Corpus ID: 46870469

Metrics

Views

46 since deposited on 2023-01-27
45last week
Acq. date: 2025-11-13

Citations

Citation copied

Ott, J., Caesar, J., Mächler, M., Schinzel, A., & Schmid, W. (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40, 305–307. https://doi.org/10.1159/000153950

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