Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles-Reference-Cited by-同舟云学术

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

Published:2016-11-23 Issue:2 Volume:25 Page:257-261
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Botta Annalisa,Rossi Giulia,Marcaurelio Marzia,Fontana Luana,D'Apice Maria Rosaria,Brancati Francesco,Massa Roberto,G Monckton Darren,Sangiuolo Federica,Novelli Giuseppe

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016148.pdf

Reference22 articles.

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2. Brook JD, McCurrach ME, Harley HG et al: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992; 69: 799–808.

3. 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.

4. Musova Z, Mazanec R, Krepelova A et al: Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. Am J Med Genet 2009; 149A: 1365–1374.

5. Braida C, Stefanatos RK, Adam B et al: Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol. Genet 2010; 19: 1399–1412.

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