Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

doi:10.1007/BF00210802

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Article

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Human genetics - 1 May 1990

Barbujani G, Russo A, Danieli G A, Spiegler A W, Borkowska J, Petrusewicz I H

Abstract excerpt

The proportion of sporadic cases of Duchenne muscular dystrophy has been estimated by classical segregation analysis in a pooled sample of 1885 sibships from 7 different countries. A significant departure from the theoretical expectations based on mutation-selection equilibrium is observed (segre...

Topics

Chromosomes, Human
Female
Humans
Male
Mosaicism
Muscular Dystrophies
Mutation
Probability
Selection, Genetic
Statistics as Topic

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