Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis

2007 ◽  
Vol 24 (2) ◽  
pp. 231-236 ◽  
Author(s):  
Lucia Anna Muscarella ◽  
Maria Rosaria Piemontese ◽  
Raffaela Barbano ◽  
Antonina Fazio ◽  
Vito Guarnieri ◽  
...  
Keyword(s):  
Dystrophin Gene ◽  
Novel Mutations ◽  
Rapid Scanning ◽  
Dhplc Analysis

Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

1998 ◽  
Vol 12 (1) ◽  
pp. 70-70 ◽  
Author(s):  
Milena Cau ◽  
Antonio Cao ◽  
Daniela Loi ◽  
Alberto Puddu ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Dystrophin Gene ◽  
Carboxy Terminus ◽  
Novel Mutations

scholarly journals Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure

1999 ◽  
Vol 13 (2) ◽  
pp. 173-173
Author(s):  
Christ�le Dubourg ◽  
Sylvie Odent ◽  
Patricia Fergelot ◽  
Jean-Yves Le Gall ◽  
V�ronique David ◽  
...  
Keyword(s):  
Dystrophin Gene ◽  
Screening Procedure ◽  
Novel Mutations

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

1997 ◽  
Vol 9 (2) ◽  
pp. 188-190 ◽  
Author(s):  
Fawzy A. Saad ◽  
Maria L. Mostacciuolo ◽  
Carlo P. Trevisan ◽  
Giuliano Tomelleri ◽  
Corrado Angelini ◽  
...  
Keyword(s):  
Dystrophin Gene ◽  
Conformation Analysis ◽  
Novel Mutations ◽  
Human Dystrophin

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene
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