Artículos -

Navegar

Últimos Documentos Autor FCEN - Año Autor FCEN - Revista Año - Revista Revista - Año SubjectPcEn Colores Type

Colección

Datos Estadísticas

Lista de

Mutation, Missense

9

"Mitochondrial genome architecture in non-alcoholic fatty liver disease" (2016) Sookoian, S.;Flichman, D.;Scian, R. (...)Pirola, C.J. Journal of Pathology. 240(4):437-449

"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. New insight into the structurefunction relationships of 3βhydroxysteroid dehidrogenase type II" (2015) Baquedano, M.S.;Ciaccio, M.;Marino, R. (...)Belgorosky, A. Journal of Clinical Endocrinology and Metabolism. 100(1):E191-E196

"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II" (2015) Baquedano, M.S.;Ciaccio, M.;Marino, R. (...)Belgorosky, A. The Journal of clinical endocrinology and metabolism. 100(1):E191-E196

"Inhibitor of growth 1 (ING1) acts at early steps of multiple DNA repair pathways" (2013) Ceruti, J.M.;Ogara, M.F.;Menéndez, C. (...)Cánepa, E.T. Molecular and Cellular Biochemistry. 378(1-2):117-126

"Presynaptic Cav2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held" (2012) Inchauspe, C.G.;Urbano, F.J.;Di Guilmi, M.N. (...)Uchitel, O.D. Journal of Neurophysiology. 108(11):2967-2976

"Ligand migration in the apolar tunnel of Cerebratulus lacteus mini-hemoglobin" (2011) Pesce, A.;Nardini, M.;Dewilde, S. (...)Olson, J.S. Journal of Biological Chemistry. 286(7):5347-5358

"Genetic and biochemical studies in Argentinean patients with variegate porphyria" (2008) Rossetti, M.V.;Granata, B.X.;Giudice, J. (...)Batlle, A. BMC Medical Genetics. 9

"Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)." (2000) De Siervi, A.;Weiss Cádiz, D.E.;Parera, V.E. (...)Rossetti, M.V. Human mutation. 16(4):373

"Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria." (2000) De Siervi, A.; Parera, V.E.; del C Batlle, A.M.; Rossetti, M.V. Human mutation. 16(6):532

Facultad de Ciencias Exactas y Naturales - Universidad de Buenos Aires - Argentina
Intendente Güiraldes 2160 - Ciudad Universitaria - C1428EGA - Tel. (+54 9 11) 5285-7400

Biblioteca | Campus Virtual | Trámites | Intranet | Webmail | Contacto | UBA