A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset-Reference-Cited by-同舟云学术

A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset

Published:1998-04 Issue:4 Volume:62 Page:842-847
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lalioti Maria D.,Scott Hamish S.,Genton Pierre,Grid Djamel,Ouazzani Réda,M'Rabet Amel,Ibrahim Sadi,Gouider Riadh,Dravet Charlotte,Chkili Taieb,Bottani Armand,Buresi Catherine,Malafosse Alain,Antonarakis Stylianos E.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference18 articles.

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3. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase;Chong;Am J Med Genet,1994

4. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia;Filla;Am J Hum Genet,1996

5. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1;Lafrenière;Nat Genet,1997

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