Rupleen Kaur

MD/PhD Student | Case Western Reserve University

NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy

Journal article

S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, S. Iannaccone, D. Macarthur, A. Foley, M. Schwake, C. Bönnemann
Neuromuscular Disorders, 2018
Semantic Scholar DOI
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APA
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., … Bönnemann, C. (2018). NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy. Neuromuscular Disorders.

Chicago/Turabian
Donkervoort, S., Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, et al. “NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive Mutations in BET1 and GOSR2 Establish Q-SNARE Golgi-Vesicle-Transport Genes as a Cause for Congenital Muscular Dystrophy with Epilepsy.” Neuromuscular Disorders (2018).

MLA
Donkervoort, S., et al. “NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive Mutations in BET1 and GOSR2 Establish Q-SNARE Golgi-Vesicle-Transport Genes as a Cause for Congenital Muscular Dystrophy with Epilepsy.” Neuromuscular Disorders, 2018.

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