First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation-Reference-Cited by-同舟云学术

First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation

Published:2018-02 Issue:1 Volume:497 Page:93-101
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Ghorbel Rania,Ghorbel Raouia,Rouissi Aida,Fendri-Kriaa Nourhene,Ben Salah Ghada,Belguith Neila,Ammar-Keskes Leila,Gouider-Khouja Neziha,Fakhfakh Faiza

Funder

Ministry of Higher Education and Scientific Research

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference51 articles.

1. Uberein eigenartiges hirnatrophisches Syndrom bei Hyperammonemie im Kindesalter;Rett;Wien Med. Wochenschr.,1966

2. Rett syndrome in Australia: a review of the Epidemiology;Laurvick;J. Pediatr.,2006

3. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome clinical criteria consensus panel satellite to European paediatric Neurology society meeting, Baden, Germany, 11 september 2001;Hagberg;Eur. J. Paediatr. Neurol.,2001

4. Rett syndrome: revised diagnostic criteria and nomenclature;Neul;Ann. Neurol.,2010

5. Rett syndrome is caused by mutations in X linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat. Genet.,1999

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