491
The resulting W474C substitution clearly interferes with alpha - subunit processing , but because the base substitution falls at the first position of exon 13 , aberrant splicing may also contribute to Hex A deficiency in this proband . .
 Disease: Hex A deficiency
Please list all entity words in the text that fit the category.Output format is "type1: word1; type2: word2". 
Option: Disease 
Text: {0} 
Answer:
 Disease: Hex A deficiency