Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21

被引:65
作者
Grohmann, K
Wienker, TF
Saar, K
Rudnik-Schöneborn, S
Stoltenburg-Didinger, G
Rossi, R
Novelli, G
Nürnberg, G
Pfeufer, A
Wirth, B
Reis, A
Zerres, K
Hübner, C
机构
[1] Humboldt Univ, Clin Neuropediat, D-13353 Berlin, Germany
[2] Humboldt Univ, Inst Lab Med, D-13353 Berlin, Germany
[3] Univ Hosp Benjamin Franklin, Dept Neuropathol, Berlin, Germany
[4] Childrens Hosp Neukolln, Berlin, Germany
[5] Univ Bonn, Inst Med Stat, D-5300 Bonn, Germany
[6] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany
[7] Max Delbruck Ctr Mol Med, Microsatellite Ctr, Berlin, Germany
[8] Aachen Tech Univ, Dept Human Genet, Aachen, Germany
[9] Univ Roma Tor Vergata, Dept Biopathol & Diagnost Imaging, Rome, Italy
关键词
D O I
10.1086/302636
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1459 / 1462
页数:4
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