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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Human Geneticsarrow_drop_down
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Human Genetics
Article . 1977 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Padua research Archive (Archivio istituzionale della ricerca - Università di Padova)
Article . 1977
Data sources: Padua research Archive (Archivio istituzionale della ricerca - Università di Padova)
Human Genetics
Article . 1977
Data sources: Europe PubMed Central
https://dx.doi.org/10.1007/bf0...
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Duchenne muscular dystrophy

A population study
descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1977 English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 35, pages 225-231 (issn: 0340-6717, eissn: 1432-1203, Copyright policy )
Authors: Danieli GA; MOSTACCIUOLO, MARIA LUISA; Bonfante A; ANGELINI, CORRADO;

doi: 10.1007/bf00393974

pmid: 844870

handle: 11577/2517425

Duchenne muscular dystrophy

Abstract

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Related Organizations
Keywords

Male, Genetics, Population, Italy, Mutation, Humans, Female, Muscular Dystrophies, Retrospective Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
39
Top 10%
Top 10%
Top 10%
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