cb1E type of homocystinuria due to methionine synthase reductase deficiency:: Functional correction by minigene expression (vol 25, pg 239, 2005)

被引:0
作者
Zavadáková, P
Fowler, B
Suormala, T
Novotna, Z
Mueller, P
Hennermann, JB
Zeman, J
Vilaseca, MA
Vilarinho, L
Gutsche, S
Wilichowski, E
Horneff, G
Kozich, V
机构
[1] Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic
[2] Univ Basel, Childrens Hosp, UKBB, Basel, Switzerland
[3] HELIOS Hosp, Dept Pediat, Leisnig, Germany
[4] Charite Univ Berlin, Med Ctr, Otto Heubner Ctr Pediat & Adolescent Med, Berlin, Germany
[5] Charles Univ, Fac Med 1, Ctr Integrated Genom, Dept Pediat, CR-11636 Prague, Czech Republic
[6] Hosp Sant Joan Deu, Barcelona, Spain
[7] Inst Med Genet, Oporto, Portugal
[8] Med Univ Lubeck, Dept Pediat, D-23538 Lubeck, Germany
[9] Univ Gottingen, Dept Pediat & Neuropediat, D-3400 Gottingen, Germany
[10] Univ Halle Wittenberg, Klin Kinder & Jugendmed, Halle Saale, Germany
关键词
D O I
10.1002/humu.20270
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:590 / 590
页数:1
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  • [1] cblE type of homocystinuria due to methionine synthase reductase deficiency:: Functional correction by minigene expression
    Zavadáková, P
    Fowler, B
    Suormala, T
    Novotna, Z
    Mueller, P
    Hennermann, JB
    Zeman, J
    Vilaseca, MA
    Vilarinho, L
    Gutsche, S
    Wilichowski, E
    Horneff, G
    Kozich, V
    [J]. HUMAN MUTATION, 2005, 25 (03) : 239 - 247