Direct detection of exon deletions/duplications in female carriers of and male patients with duchenne/Becker muscular dystrophy

被引:13
作者
Frisso, G
Carsana, A
Tinto, N
Calcagno, G
Salvatore, F
Sacchetti, L
机构
[1] Univ Naples Federico II, Dipartimento Biochim & Biotecnol Med, I-80131 Naples, Italy
[2] CEINGE Biotecnol Avanzate, I-80131 Naples, Italy
关键词
D O I
10.1373/clinchem.2004.033795
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:1435 / 1438
页数:4
相关论文
共 21 条
[1]  
BEGGS AH, 1990, HUM GENET, V86, P45
[2]  
CHAMBERLAIN JS, 1991, METHOD MOL BIOL, V9, P299
[3]   Implications of a common polymorphism in intron 12 of the dystrophin gene for deletion detection by multiplex PCR [J].
Chen, B ;
North, PE ;
Parham, DM .
GENE, 1998, 209 (1-2) :211-217
[4]  
CLEMENS PR, 1991, AM J HUM GENET, V49, P951
[5]  
den Dunnen JT, LEIDEN MUSCULAR DYST
[6]  
Fortina P, 1997, CLIN CHEM, V43, P745
[7]  
GELFI C, 1995, BIOTECHNIQUES, V19, P254
[8]  
Hoffman EP, 1996, AM J MED GENET, V63, P573, DOI 10.1002/(SICI)1096-8628(19960628)63:4<573::AID-AJMG11>3.0.CO
[9]  
2-F
[10]   DETECTION OF DUCHENNE MUSCULAR-DYSTROPHY CARRIERS BY DOSAGE ANALYSIS USING THE DMD CDNA CLONE-8 [J].
MAO, YP ;
CREMER, M .
HUMAN GENETICS, 1989, 81 (02) :193-195