scholarly journals Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

2007 ◽  
Vol 52 (4) ◽  
pp. 342-348 ◽  
Author(s):  
Daniela Zahorakova ◽  
Robert Rosipal ◽  
Jan Hadac ◽  
Alena Zumrova ◽  
Vladimir Bzduch ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene ◽  
Novel Mutations

scholarly journals Mutation analysis of the MECP2 gene in patients with Rett syndrome

2006 ◽  
Vol 20 (4) ◽  
Author(s):  
Daniela Zahorakova ◽  
Robert Rosipal ◽  
Jiri Zeman ◽  
Pavel Martasek
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene

scholarly journals Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

2013 ◽  
Vol 21 (4) ◽  
Author(s):  
Simona Dumitriu ◽  
Enriko Klootwijk ◽  
Naomi Issler ◽  
Horia Stanescu ◽  
Robert Kleta ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

2000 ◽  
Vol 78 (11) ◽  
pp. 648-655 ◽  
Author(s):  
Marcella Vacca ◽  
Francesco Filippini ◽  
Alberta Budillon ◽  
Valeria Rossi ◽  
Grazia Mercadante ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene

Two novel mutations in the MECP2 gene in patients with Rett syndrome

Gene ◽  
2020 ◽  
Vol 732 ◽  
pp. 144337 ◽  
Author(s):  
Shayan Khalili Alashti ◽  
Jafar Fallahi ◽  
Sanaz Mohammadi ◽  
Fatemeh Dehghanian ◽  
Zahra Farbood ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Novel Mutations

Mutation analysis of the MECP2 gene in patients with Rett syndrome

2002 ◽  
Vol 117A (2) ◽  
pp. 184-187 ◽  
Author(s):  
Francesca L. Conforti ◽  
Rosalucia Mazzei ◽  
Angela Magariello ◽  
Alessandra Patitucci ◽  
Anna L. Gabriele ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations

Gene ◽  
2013 ◽  
Vol 515 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Dhanjit Kumar Das ◽  
Sarbani Raha ◽  
Daksha Sanghavi ◽  
Anurupa Maitra ◽  
Vrajesh Udani
Keyword(s):  
Rett Syndrome ◽  
Gene Mutations ◽  
Mecp2 Gene ◽  
Novel Mutations ◽  
Indian Patients ◽  
Syndrome Report

scholarly journals MECP2 gene mutation analysis in Chinese patients with Rett syndrome

2002 ◽  
Vol 10 (8) ◽  
pp. 484-486 ◽  
Author(s):  
Hong Pan ◽  
Yan-Ping Wang ◽  
Xing-Hua Bao ◽  
Hong-Di Meng ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
Mutation Analysis ◽  
Chinese Patients ◽  
Mecp2 Gene ◽  
Gene Mutation Analysis
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