Title : Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Pub. Date : 2011 Mar

PMID : 21173700






1 Functional Relationships(s)
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1 Subsequent analysis identified a novel, hemizygous missense mutation in the X-linked inhibitor of apoptosis gene, substituting a tyrosine for a highly conserved and functionally important cysteine. Tyrosine X-linked inhibitor of apoptosis Homo sapiens