Familial dysautonomia.
Familial dysautonomia.
复制标题
家族性自主神经功能障碍。
DOI：
10.1016/s0959-437x(02)00303-9
复制
发表时间：
2002
影响因子：
4
通讯作者：
Gusella,JamesF
中科院分区：
文献类型：
--
作者：
Slaugenhaupt,SusanA;Gusella,JamesF
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex. The major FD mutation is a splice mutation that results in aberrant tissue-specific mRNA splicing.
