Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

MeSH terms

• Amino Acid Sequence
• Base Sequence
• Child
• Child, Preschool
• Exons / genetics*
• Family
• Female
• Homozygote
• Humans
• Italy
• Male
• Membrane Proteins / chemistry
• Membrane Proteins / genetics*
• Molecular Sequence Data
• Mutation / genetics*
• Pedigree
• Wolfram Syndrome / genetics*
• Young Adult