Clinical utility gene card for: Hypophosphatasia - update 2013

被引：44
|
作者：
Mornet, Etienne [1 ,2 ]
Hofmann, Christine [3 ]
Bloch-Zupan, Agnes [4 ,5 ,6 ]
Girschick, Hermann [7 ]
Le Merrer, Martine [8 ,9 ]
机构：
[1] Univ Versailles St Quentin Yvelines, UPRES, Fac Med Paris France Ouest PRES Universud Paris, Unite Pathol Cellulaire & Genet,EA2493, Versailles, France
[2] Ctr Hosp Versailles, Unite Genet Constitut, Paris, France
[3] Univ Wurzburg, Kinderklin & Poliklin, Funkt bereich Pediat Rheumatol Immunol & Osteo, D-97070 Wurzburg, Germany
[4] Univ Strasbourg, Fac Dent, Strasbourg, France
[5] Hop Univ Strasbourg, Reference Ctr Orodental Manifestat Rare Dis, Strasbourg, France
[6] CNRS UdS, Inserm, Inst Genet & Mol & Cellular Biol IGBMC, U964,UMR7104, Illkirch Graffenstaden, France
[7] Vivantes Klinikum Friedrichshain, Dept Pediat, Clin Pediat & Adolescent Med, Berlin, Germany
[8] Hop Necker Enfants Malad, U781, Paris, France
[9] Hop Necker Enfants Malad, Ctr Reference Malad Osseuses Constitut, Dept Genet, Paris, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2014年 / 22卷 / 04期
关键词：
ENZYME-REPLACEMENT THERAPY; INFANTILE HYPOPHOSPHATASIA; IN-UTERO; ALKALINE-PHOSPHATASE; ADULT HYPOPHOSPHATASIA; COMPOUND HETEROZYGOSITY; MISSENSE MUTATIONS; ALPL GENE; DISEASE; LOCALIZATION;
D O I：
10.1038/ejhg.2013.177
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：
[No abstract available]
引用
收藏
页码：e1 / e6
页数：6
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