A de novo band 3 mutation in hereditary spherocytosis

被引:8
作者
Bogardus, Hannah H. [1 ]
Maksimova, Yelena D. [1 ]
Forget, Bernard G. [2 ,3 ]
Gallagher, Patrick G. [1 ,3 ]
机构
[1] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA
[2] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA
[3] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA
关键词
ANION-EXCHANGE; GENE; PHENOTYPE;
D O I
10.1002/pbc.23400
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:1004 / 1004
页数:1
相关论文
共 9 条
[1]   A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis [J].
Iolascon, Achille ;
De Falco, Luigia ;
Borgese, Franck ;
Esposito, Maria Rosaria ;
Avvisati, Rosa Anna ;
Izzo, Pietro ;
Piscopo, Carmelo ;
Guizouarn, Helene ;
Biondani, Andrea ;
Pantaleo, Antonella ;
De Franceschi, Lucia .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (08) :1049-1059
[2]   MUTATIONS OF CONSERVED ARGININES IN THE MEMBRANE DOMAIN OF ERYTHROID BAND-3 LEAD TO A DECREASE IN MEMBRANE-ASSOCIATED BAND-3 AND TO THE PHENOTYPE OF HEREDITARY SPHEROCYTOSIS [J].
JAROLIM, P ;
RUBIN, HL ;
BRABEC, V ;
CHROBAK, L ;
ZOLOTAREV, AS ;
ALPER, SL ;
BRUGNARA, C ;
WICHTERLE, H ;
PALEK, J .
BLOOD, 1995, 85 (03) :634-640
[3]   Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis [J].
Karet, FE ;
Gainza, FJ ;
Györy, AZ ;
Unwin, RJ ;
Wrong, O ;
Tanner, MJA ;
Nayir, A ;
Alpay, H ;
Santos, F ;
Hulton, SA ;
Bakkaloglu, A ;
Ozen, S ;
Cunningham, MJ ;
di Pietro, A ;
Walker, WG ;
Lifton, RP .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (11) :6337-6342
[4]   Band 3Tambau:: a de novo mutation in the AE1 gene associated with hereditary spherocytosis.: Implications for anion exchange and insertion into the red blood cell membrane [J].
Lima, PRM ;
Baratti, MO ;
Chiattone, ML ;
Costa, FF ;
Saad, STO .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2005, 74 (05) :396-401
[5]  
Lima PRM, 1999, EUR J HAEMATOL, V63, P360
[6]   Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency [J].
Maciag, Monika ;
Plochocka, Danuta ;
Mendek-Czajkowska, Ewa ;
Adamowicz-Salach, Anna ;
Spychalska, Justyna ;
Zdebska, Ewa ;
Jablonska-Skwiecinska, Ewa ;
Koscielak, Jerzy ;
Burzynska, Beata .
ACTA HAEMATOLOGICA, 2006, 116 (02) :143-145
[7]   Hereditary spherocytosis [J].
Perrotta, Silverio ;
Gallagher, Patrick G. ;
Mohandas, Narla .
LANCET, 2008, 372 (9647) :1411-1426
[8]   A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis [J].
Sritippayawan, S ;
Kirdpon, S ;
Vasuvattakul, S ;
Wasanawatana, S ;
Susaengrat, W ;
Waiyawuth, W ;
Nimmannit, S ;
Malasit, P ;
Yenchitsomanus, PT .
PEDIATRIC NEPHROLOGY, 2003, 18 (07) :644-648
[9]  
Yawata Y, 2000, INT J HEMATOL, V71, P118