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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. slaugenh@helix.mgh.harvard.edu

Abstract

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.

PMID:
12076674
[PubMed - indexed for MEDLINE]
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