A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Keyphrases

• Gene mutation 100%
• Hereditary Folate Malabsorption 100%
• Autosomal Recessive 50%
• Direct Sequencing 50%
• Clinical Phenotype 50%
• Folate 25%
• Central Nervous System 25%
• Pakistani 25%
• Truncated Protein 25%
• Malabsorption 25%
• Mutation Spectrum 25%
• Consanguineous Family 25%
• Genetic Linkage Study 25%
• Exon 1 25%
• Coding Exons 25%
• Homozygous Frameshift mutation 25%
• Mononucleotide Repeat 25%
• Folate Transport 25%
• Folate Transporters 25%

Biochemistry, Genetics and Molecular Biology

• Folic Acid 100%
• Gene Mutation 100%
• Exon 28%
• Autosomal Recessive Inheritance 14%
• Autosomal Recessive Disorder 14%
• Genetic Linkage 14%
• Frameshift Mutation 14%