Publications:

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One

Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ

Publication Date: 2021

Variant appearance in text: DMD: 3603+2dupT

PubMed Link: 34297739

Variant Present in the following documents:

• pone.0255011.s001.pdf

View BVdb publication page

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics

Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y

Publication Date: 2019

Variant appearance in text: DMD: 3603+2dupT

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 3603+2dupT

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

View BVdb publication page

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscular Disorders : Nmd

Soltanzadeh, Payam P; Friez, Michael J MJ; Dunn, Diane D; von Niederhausern, Andrew A; Gurvich, Olga L OL; Swoboda, Kathryn J KJ; Sampson, Jacinda B JB; Pestronk, Alan A; Connolly, Anne M AM; Florence, Julaine M JM; Finkel, Richard S RS; Bönnemann, Carsten G CG; Medne, Livija L; Mendell, Jerry R JR; Mathews, Katherine D KD; Wong, Brenda L BL; Sussman, Michael D MD; Zonana, Jonathan J; Kovak, Karen K; Gospe, Sidney M SM; Gappmaier, Eduard E; Taylor, Laura E LE; Howard, Michael T MT; Weiss, Robert B RB; Flanigan, Kevin M KM

Publication Date: 2010-08

Variant appearance in text: DMD: 3603+2dupT

PubMed Link: 20630757

Variant Present in the following documents:

• Main text

View BVdb publication page