PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE

被引：7

作者：

BRAHE, C ^{[1
]}

ZAPPATA, S ^{[1
]}

BERTINI, E ^{[1
]}

机构：

[1] OSPED BAMBINO GESU,DIV NEUROPEDIAT,ROME,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320590121

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：101 / 102

页数：2

共 3 条

[1] PRESYMPTOMATIC DIAGNOSIS OF SMA-III BY GENOTYPE ANALYSIS [J].

BRAHE, C ;

ZAPPATA, S ;

VELONA, I ;

BERTINI, E ;

SERVIDEI, S ;

TONALI, P ;

NERI, G .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03) :408-411

[2] IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE [J].

LEFEBVRE, S ;

BURGLEN, L ;

REBOULLET, S ;

CLERMONT, O ;

BURLET, P ;

VIOLLET, L ;

BENICHOU, B ;

CRUAUD, C ;

MILLASSEAU, P ;

ZEVIANI, M ;

LEPASLIER, D ;

FREZAL, J ;

COHEN, D ;

WEISSENBACH, J ;

MUNNICH, A ;

MELKI, J .

CELL, 1995, 80 (01) :155-165

[3] THE GENE FOR NEURONAL APOPTOSIS INHIBITORY PROTEIN IS PARTIALLY DELETED IN INDIVIDUALS WITH SPINAL MUSCULAR-ATROPHY [J].

ROY, N ;

MAHADEVAN, MS ;

MCLEAN, M ;

SHUTLER, G ;

YARAGHI, Z ;

FARAHANI, R ;

BAIRD, S ;

BESNERJOHNSTON, A ;

LEFEBVRE, C ;

KANG, XL ;

SALIH, M ;

AUBRY, H ;

TAMAI, K ;

GUAN, XP ;

IOANNOU, P ;

CRAWFORD, TO ;

DEJONG, PJ ;

SURH, L ;

IKEDA, JE ;

KORNELUK, RG ;

MACKENZIE, A .

CELL, 1995, 80 (01) :167-178

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