Publications:

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Neurology. Genetics

Selvatici, Rita R; Rossi, Rachele R; Fortunato, Fernanda F; Trabanelli, Cecilia C; Sifi, Yamina Y; Margutti, Alice A; Neri, Marcella M; Gualandi, Francesca F; Szabò, Lena L; Fekete, Balint B; Angelova, Lyudmilla L; Litvinenko, Ivan I; Ivanov, Ivan I; Vildan, Yurtsever Y; Iuhas, Oana Alexandra OA; Vintan, Mihaela M; Burloiu, Carmen C; Lacramioara, Butnariu B; Visa, Gabriela G; Epure, Diana D; Rusu, Cristina C; Vasile, Daniela D; Sandu, Magdalena M; Vlodavets, Dmitry D; Mager, Monica M; Kyriakides, Theodore T; Delin, Sanja S; Lehman, Ivan I; Fureš, Jadranka Sekelj JS; Bojinova, Veneta V; Militaru, Mariela M; Guergueltcheva, Velina V; Burnyte, Birute B; Molnar, Maria Judith MJ; Butoianu, Niculina N; Bensemmane, Selma Dounia SD; Makri-Mokrane, Samira S; Herczegfalvi, Agnes A; Panzaru, Monica M; Emandi, Adela Chirita AC; Lusakowska, Anna A; Potulska-Chromik, Anna A; Kostera-Pruszczyk, Anna A; Shatillo, Andriy A; Khelladi, Djawed Bouchenak DB; Dendane, Oussama O; Fang, Mingyan M; Lu, Zhiyuan Z; Ferlini, Alessandra A

Publication Date: 2021-02

Variant appearance in text: DMD: 2521C>T; Gln841*

PubMed Link: 33376799

Variant Present in the following documents:

• NG2020014407.pdf

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 2521C>T; Q841X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

Bmc Genetics

Bennett, Richard R RR; Schneider, Hal E HE; Estrella, Elicia E; Burgess, Stephanie S; Cheng, Andrew S AS; Barrett, Caitlin C; Lip, Va V; Lai, Poh San PS; Shen, Yiping Y; Wu, Bai-Lin BL; Darras, Basil T BT; Beggs, Alan H AH; Kunkel, Louis M LM

Publication Date: 2009-10-18

Variant appearance in text: DMD: Gln841X

PubMed Link: 19835634

Variant Present in the following documents:

• Main text

View BVdb publication page