Coinheritance of α- and β-spectrin gene mutations in a case of hereditary elliptocytosis

被引:10
作者
Dhermy, D [1 ]
Galand, C
Bournier, O
King, MJ
Cynober, T
Roberts, I
Kanyike, F
Adekile, A
机构
[1] Fac Xavier Bichat, INSERM, U409, Paris, France
[2] IBGRL, Bristol, Avon, England
[3] Hop Bicetre, Kremlin Bicetre, France
[4] Hammersmith Hosp, London, England
[5] Amiri Hosp, Kuwait, Kuwait
关键词
D O I
10.1182/blood.V92.11.4481
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:4481 / 4482
页数:2
相关论文
共 11 条
[1]   SP-ALPHA-V/41 - A COMMON SPECTRIN POLYMORPHISM AT THE ALPHA-IV-ALPHA-V DOMAIN JUNCTION - RELEVANCE TO THE EXPRESSION LEVEL OF HEREDITARY ELLIPTOCYTOSIS DUE TO ALPHA-SPECTRIN VARIANTS LOCATED IN TRANS [J].
ALLOISIO, N ;
MORLE, L ;
MARECHAL, J ;
ROUX, AF ;
DUCLUZEAU, MT ;
GUETARNI, D ;
POTHIER, B ;
BAKLOUTI, F ;
GHANEM, A ;
KASTALLY, R ;
DELAUNAY, J .
JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (06) :2169-2177
[2]  
COETZER T, 1990, BLOOD, V75, P2235
[3]   Red cell abnormalities in hereditary spherocytosis: Relevance to diagnosis and understanding of the variable expression of clinical severity [J].
Cynober, T ;
Mohandas, N ;
Tchernia, G .
JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1996, 128 (03) :259-269
[4]  
DALLAVENEZIA N, 1993, HUM GENET, V90, P641
[5]   Hematologically important mutations: Spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis [J].
Gallagher, PG ;
Forget, BG .
BLOOD CELLS MOLECULES AND DISEASES, 1996, 22 (20) :254-258
[6]  
Lux SE., 1995, Blood, P1701
[7]  
PARQUET N, 1994, BLOOD, V84, P303
[8]   A VARIANT OF SPECTRIN LOW-EXPRESSION ALLELE ALPHA(LELY) CARRYING A HEREDITARY ELLIPTOCYTOSIS MUTATION IN CODON-28 [J].
RANDON, J ;
BOULANGER, L ;
MARECHAL, J ;
GARBARZ, M ;
VALLIER, A ;
RIBEIRO, L ;
TAMAGNINI, G ;
DHERMY, D ;
DELAUNAY, J .
BRITISH JOURNAL OF HAEMATOLOGY, 1994, 88 (03) :534-540
[9]  
SAHR KE, 1993, J BIOL CHEM, V268, P22656
[10]   POINT MUTATION IN THE BETA-SPECTRIN GENE ASSOCIATED WITH ALPHA-I/74 HEREDITARY ELLIPTOCYTOSIS - IMPLICATIONS FOR THE MECHANISM OF SPECTRIN DIMER SELF-ASSOCIATION [J].
TSE, WT ;
LECOMTE, MC ;
COSTA, FF ;
GARBARZ, M ;
FEO, C ;
BOIVIN, P ;
DHERMY, D ;
FORGET, BG .
JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (03) :909-916