Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
复制标题

LGI4(一种参与雪旺细胞髓鞘形成的分泌配体)的功能丧失突变是导致先天性多发性关节弯曲的原因。

DOI:
--
复制
发表时间:
2017
影响因子:
9.8
通讯作者:
J. Melki
J. Melki
中科院分区:
生物学1区
文献类型:
--
作者:
Shifeng Xue;J. Maluenda;F. Marguet;M. Shboul;L. Quevarec;C. Bonnard;A. Y. Ng;S. Tohari;T. Tan;M. K. Kong;K. Monaghan;M. Cho;C. Siskind;J. Sampson;C. Rocha;F. Alkazaleh;M. Gonzalès;L. Rigonnot;S. Whalen;M. Gut;I. Gut;M. Bucourt;B. Venkatesh;A. Laquérriere;B. Reversade;J. Melki

文献摘要

参考文献

被引文献

相似文献

DOI: 10.1016/j.ajhg.2015.04.014
发表时间: 2015-06-04
影响因子: 9.8
作者:
Ravenscroft, Gianina;Nolent, Flora;Laing, Nigel G.
通讯作者: Laing, Nigel G.