DELTA THALASSEMIA - A NON-DELETION DEFECT

被引:0
|
作者
TARAMELLI, R [1 ]
GIGLIONI, B [1 ]
COMI, P [1 ]
OTTOLENGHI, S [1 ]
BRANCATI, C [1 ]
TAGARELLI, A [1 ]
POLLI, E [1 ]
GIANNI, AM [1 ]
机构
[1] UNIV MILAN,IST CLIN MED I,I-20133 MILAN,ITALY
来源
EUROPEAN JOURNAL OF BIOCHEMISTRY | 1983年 / 129卷 / 03期
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:589 / 592
页数:4
相关论文
共 50 条
  • [31] Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
    Rochette, CF
    Surh, LC
    Ray, PN
    McAndrew, PE
    Prior, TW
    Burghes, AHM
    Vanasse, M
    Simard, LR
    NEUROGENETICS, 1997, 1 (02) : 141 - 147
  • [32] Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice
    Li, QL
    Duan, ZJ
    Stamatoyannopoulos, G
    EMBO JOURNAL, 2001, 20 (1-2): : 157 - 164
  • [33] Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
    C.F. Rochette
    L.C. Surh
    P.N. Ray
    P.E. McAndrew
    T.W. Prior
    A.H.M. Burghes
    M. Vanasse
    L.R. Simard
    Neurogenetics, 1997, 1 : 141 - 147
  • [34] Detection of novel point mutations in non-deletion patients with Duchenne muscular dystrophy using DNA sequencing
    Pillay, KD
    Bill, PLA
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2003, 74 (08): : 1168 - 1169
  • [35] Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis
    Lee, SH
    Kwak, IP
    Cha, KE
    Park, SE
    Kim, NK
    Cha, KY
    MOLECULAR HUMAN REPRODUCTION, 1998, 4 (04) : 345 - 349
  • [36] HEME SYNTHESIS IN THALASSEMIA - DEFECT IN CONVERSION OF GLYCINE TO DELTA-AMINOLEVULINIC ACID
    ERLANDSON, ME
    WEHMAN, J
    SMITH, CH
    HILGARTNER, M
    STERN, G
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1961, 102 (04): : 590 - &
  • [38] DELETION OF THE A-GAMMA-GLOBIN GENE IN G-GAMMA-DELTA-BETA-THALASSEMIA
    ORKIN, SH
    ALTER, BP
    ALTAY, C
    JOURNAL OF CLINICAL INVESTIGATION, 1979, 64 (03): : 866 - 869
  • [39] MACEDONIAN (DELTA-BETA)DEGREES THALASSEMIA HAS THE SAME MOLECULAR-BASIS AS TURKISH INVERSION-DELETION (DELTA-BETA)DEGREES THALASSEMIA
    CRAIG, JE
    EFREMOV, GD
    FISHER, C
    THEIN, SL
    BLOOD, 1995, 85 (04) : 1146 - 1147
  • [40] Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis
    Parsons, DW
    McAndrew, PE
    Allinson, PS
    Parker, WD
    Burghes, AHM
    Prior, TW
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) : 674 - 676