Title : Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.

Pub. Date : 2008 Feb

PMID : 18323871






2 Functional Relationships(s)
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1 2), a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat of the protein, was found in the daughter with muscle palsy and her father with normal traits, but was not found in the mother with muscle palsy. Alanine paired like homeobox 2B Homo sapiens
2 2), a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat of the protein, was found in the daughter with muscle palsy and her father with normal traits, but was not found in the mother with muscle palsy. Alanine paired like homeobox 2B Homo sapiens