المؤلفون: Montalván‐Suárez, Martha, Saraiva Esperón, Uxía, Rodríguez Pazos, Laura, Ordóñez‐Ugalde, Andrés, Moscoso, Fernanda, Ugalde‐Noritz, Nora, Santomé Collazo, Luís, Fachal Vilar, Laura, Tettamanti‐Miranda, Daniel, Ruiz, Juan Carlos, Ginarte Val, Manuel Javier, Vega Gliemmo, Ana

مصطلحات موضوعية: Ichthyosiform Erythroderma, Congenital, Prenatal Diagnosis, Research Support, Non-U.S. Gov't, Ichthyosis, Lamellar, Case Reports, Phenotype, Codon, Nonsense, Mutation, Missense, RNA Splice Sites, ATP Binding Cassette Transporter 1, fenotipo, sitios de empalme del ARN, ictiosis lamelar, mutación de sentido erróneo, transportador de casetes de unión a ATP 1, codón sin sentido, ayuda no gubernamental a la investigación, EEUU, informes de casos, eritrodermia ictiosiforme congénita, diagnóstico prenatal, Gen ABCA12, Harlequin ichthyosis (HI), Autosomal recessive congenital ichthyoses (ARCI)

Relation: ISCIII/INT15/00,070; ISCIII/INT16/00,154; ISCIII/INT17/00,133; Xunta de Galicia/Internacional/IN607B; https://www.ncbi.nlm.nih.gov/pubmed/?term=30916489; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032/; http://hdl.handle.net/20.500.11940/12841

الاتاحة: https://hdl.handle.net/20.500.11940/12841
https://www.ncbi.nlm.nih.gov/pubmed/?term=30916489
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032/
https://doi.org/10.1002/mgg3.608

المؤلفون: Borràs N, Orriols G, Batlle Fonrodona, Francisco Javier, Perez Rodriguez, Almudena, Fidalgo T, Martinho P, López Fernández, María Fernanda, Rodríguez Trillo, Angela, Lourés Fraga, Esther, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés y Jacob, Aurora, Fontanes Trabazo, Emilia, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Albors Ferreiro, Manuel, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I

مصطلحات موضوعية: Base Sequence, von Willebrand Factor, von Willebrand Diseases, Exons, Introns, RNA, Leukocytes, Gene Silencing, Genotype, Mutation, Computational Biology, Blood Platelets, Humans, RNA Splicing, High-Throughput Nucleotide Sequencing, RNA Splice Sites, Gene Frequency, Alleles, sitios de empalme del ARN, mutación, frecuencia génica, secuenciación de nucleótidos de alto rendimiento, factor de von Willebrand, exones, alelos, enfermedades de von Willebrand, ARN, secuencia de bases, biología computacional, silenciamiento génico

Relation: https://haematologica.org/article/download/8816/62194; https://www.ncbi.nlm.nih.gov/pubmed/30361419; http://hdl.handle.net/20.500.11940/15003; 28266

الاتاحة: https://hdl.handle.net/20.500.11940/15003
https://www.ncbi.nlm.nih.gov/pubmed/30361419
https://doi.org/10.3324/haematol.2018.203166

Alternate Title: Recent advances in the molecular etilogy and treatment of Severe Combined Immunodeficiency (SCID). (English)

المؤلفون: Arrieta-Bolaños, Esteban

المصدر: Revista Biomedica; ene-abr2010, Vol. 21 Issue 1, p35-47, 13p, 1 Chart

مصطلحات موضوعية: ETIOLOGY of diseases, SEVERE combined immunodeficiency, CELL physiology, HEMATOPOIETIC stem cells, GENE therapy, AUTOIMMUNITY

المؤلفون: Peter M. Howley, David M. Knipe, Sean Whelan, Eric O. Freed

Resource Type: eBook.

Categories: MEDICAL / Infectious Diseases, MEDICAL / Epidemiology, MEDICAL / Public Health, MEDICAL / Infection Control