Publications:

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: 615T>A; Tyr205Ter

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis

Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J

Publication Date: 2018-09

Variant appearance in text: DMD: 615T>A; Tyr205X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

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Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Neuromuscular Disorders : Nmd

Connolly, Anne M AM; Florence, Julaine M JM; Cradock, Mary M MM; Malkus, Elizabeth C EC; Schierbecker, Jeanine R JR; Siener, Catherine A CA; Wulf, Charlie O CO; Anand, Pallavi P; Golumbek, Paul T PT; Zaidman, Craig M CM; Philip Miller, J J; Lowes, Linda P LP; Alfano, Lindsay N LN; Viollet-Callendret, Laurence L; Flanigan, Kevin M KM; Mendell, Jerry R JR; McDonald, Craig M CM; Goude, Erica E; Johnson, Linda L; Nicorici, Alina A; Karachunski, Peter I PI; Day, John W JW; Dalton, Joline C JC; Farber, Janey M JM; Buser, Karen K KK; Darras, Basil T BT; Kang, Peter B PB; Riley, Susan O SO; Shriber, Elizabeth E; Parad, Rebecca R; Bushby, Kate K; Eagle, Michelle M; ,

Publication Date: 2013-07

Variant appearance in text: DMD: 615T>A

PubMed Link: 23726376

Variant Present in the following documents:

• Main text

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