國家衛生研究院 NHRI:Item 3990099045/1228
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    題名: Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes
    作者: Lanzara, C;Ficarella, R;Totaro, A;Chen, X;Roberto, R;Perrotta, S;Lasalandra, C;Gasparini, P;Iolascon, A;Carella, M;Carella, A
    貢獻者: Division of Biotechnology and Pharmaceutical Research
    摘要: Congenital dyserythropoietic anemias (CDA) are genetic disorders characterized by anemia and ineffective erythropoiesis. Three main types of CDA have been distinguished: CDAI, CDAII and CDA III, whose loci have been already mapped. After the identification of the locus for CDA II, also known as HEMPAS (hereditary erythroblast multinuclearity with positive acidified serum test), on the long arm of chromosome 20 (20q11.2) we have analyzed by a mutational search seven candidate genes in a large series of CDA 11 patients. In particular, the following genes have been investigated: integrin beta 4 binding protein, ribophorin II, ubiquitin protein ligase ITCH, marmosil-oligosaccharide alpha-1,2-mannosidase like protein, erythrocyte protein band 4.1 like protein, zinc finger protein PLAGL2, and finally novel zinc finger protein. None of them resulted as the causative gene but several protein variants and DNA polymorphisms have been identified. These data exclude the role of the above mentioned genes in causing CDA II and add further information in the process of cloning the CDA II gene. (C) 2003 Elsevier Science (USA). All rights reserved.
    關鍵詞: Hematology
    日期: 2003-01
    關聯: Blood Cells Molecules and Diseases. 2003 Jan-Feb;30(1):22-29.
    Link to: http://dx.doi.org/10.1016/S1079-9796(03)00009-3
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1079-9796&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000182182200003
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=12244284608
    顯示於類別:[陳新(2002-2015)] 期刊論文

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