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pro vyhledávání: '"Jacqueline B. Goldberg"'
Autor:
Sharon B. Schwartz, Byron L. Lam, Richard G. Weleber, Samuel G. Jacobson, Jennifer A Halder, Jacqueline B. Goldberg, Elise Héon, Xunda Luo, Louisa M. Affatigato, Artur V. Cideciyan, Edwin M. Stone, Alexander Sumaroka
Publikováno v:
Investigative Opthalmology & Visual Science. 52:9665
To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene.Patients with RP and MAK gene mutations (n = 24; age, 32-77 years at first visit) were st