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Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.

A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dom...

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Bibliografiske detaljer
Main Authors: Rushton, A R, Shaywitz, B A
Format: Artigo
Sprog:Inglês
Udgivet: 1979
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012777/
https://ncbi.nlm.nih.gov/pubmed/469883
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