Zobrazeno 1 - 2
of 2
pro vyhledávání: '"E. R. Pozsgai"'
Autor:
Jerry R. Mendell, E. R. Pozsgai, Linda Lowes, S. Neuhaus, M. A. Iammarino, A. S. Meadows, Kelly J. Lehman, Danielle A. Griffin, N. F. Reash, E. Koenig, A. Mueller-York, Sarah Lewis, L. R. Rodino-Klapac, X. Li, Kathleen Church
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Autor:
Kristin N. Heller, Jerry R. Mendell, Zarife Sahenk, Ryan W. Johnson, E. R. Pozsgai, William E. Grose, Danielle A. Griffin, Louise R. Rodino-Klapac
Publikováno v:
Neuromuscular Disorders. 24:904
Limb girdle muscular dystrophy type 2L (LGMD2L) is caused by mutations in the anoctamin 5 (ANO5) gene. ANO5 encodes a predicted 107 kDa protein containing 8 transmembrane domains and is part of a family that encodes at least 2 calcium-activated chlor