Send to

Choose Destination
See comment in PubMed Commons below
Curr Opin Genet Dev. 2002 Jun;12(3):307-11.

Familial dysautonomia.

Author information

  • 1Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center