المؤلفون: Immacolata Andolfo, Seth L. Alper, Carla Auriemma, Roberta Russo, Luigia De Falco, Fara Vallefuoco, Maria Rosaria Esposito, David H. Vandorpe, Boris E. Shmukler, Rupa Narayan, Donatella Montanaro, Maria D’Armiento, Annalisa Vetro, Ivan Limongelli, Orsetta Zuffardi, Bertil E. Glader, Stanley L. Schrier, Carlo Brugnara, Gordon W. Stewart, Jean Delaunay, Achille Iolascon, DE FRANCESCHI, Lucia

المساهمون: Immacolata, Andolfo, Seth L., Alper, DE FRANCESCHI, Lucia, Carla, Auriemma, Roberta, Russo, Luigia De, Falco, Fara, Vallefuoco, Maria Rosaria, Esposito, David H., Vandorpe, Boris E., Shmukler, Rupa, Narayan, Donatella, Montanaro, Maria, D’Armiento, Annalisa, Vetro, Ivan, Limongelli, Orsetta, Zuffardi, Bertil E., Glader, Stanley L., Schrier, Carlo, Brugnara, Gordon W., Stewart, Jean, Delaunay, Achille, Iolascon

مصطلحات موضوعية: stomatocytosis

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23479567; info:eu-repo/semantics/altIdentifier/wos/000321870900023; volume:121; firstpage:3925; lastpage:3935; numberofpages:10; journal:BLOOD; http://hdl.handle.net/11562/627321; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84878716780

الاتاحة: http://hdl.handle.net/11562/627321
https://doi.org/10.1182/blood-2013-02-482489

المؤلفون: Roberta Asci, Carla Auriemma, Boris E. Shmukler, Carlo Brugnara, Jean Delaunay, Roberta Russo, Immacolata Andolfo, Seth L. Alper, Achille Iolascon, Maria Rosaria Esposito, Alok K. Sharma, Lucia De Franceschi

المساهمون: Andolfo, I, Alper, Sl, Delaunay, J, Auriemma, C, Russo, Roberta, Asci, R, Esposito, Mr, Sharma, Ak, Shmukler, Be, Brugnara, C, De Franceschi, L, Iolascon, Achille

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Candidate gene, Immunology, Mutation, Missense, medicine.disease_cause, Biochemistry, medicine, Humans, Missense mutation, Familial pseudohyperkalemia, Codon, Gene, Erythroid Precursor Cells, Genetics, Messenger RNA, Mutation, biology, Red Cell, ABCB6, Cell Biology, Hematology, Molecular biology, Amino Acid Substitution, Chromosomes, Human, Pair 2, Potassium, biology.protein, Hyperkalemia, ATP-Binding Cassette Transporters, Female, K562 Cells, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1937ab73561b9988d48cbe815737da2b
http://europepmc.org/abstract/med/23180570