Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child-Reference-Cited by-同舟云学术

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Published:2009-04-15 Issue:11 Volume:17 Page:1403-1410
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

De Rademaeker Marjan,Verpoest Willem,De Rycke Martine,Seneca Sara,Sermon Karen,Desmyttere Sonja,Bonduelle Maryse,Van der Elst Josianne,Devroey Paul,Liebaers Inge

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200956.pdf

Reference42 articles.

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2. Machuca Tzili L, Brook D, Hilton Jones D : Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005; 31: 1–18.

3. Salehi L, Bonifazi E, Di Stasio E et al: Risk prediction for clinical phenotypes in myotonic dystrophy type 1: data from 2650 patients. Gene Test 2007; 11: 84–90.

4. Brook J, Mc Currah M, Harley H, Buckler A, Church D, Aburatani H : Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeats at 3′ end of transcript encoding a protein kinase family member. Cell 1997; 68: 799–808.

5. Mahadevan M, Tsilfidis C, Sabourin L et al: Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992; 255: 1253–1255.

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