Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin

Keyphrases

• Jews 100%
• Splice Junction 100%
• Moroccan 100%
• Cerebrotendinous Xanthomatosis 100%
• Frameshift 100%
• Sterol 27-hydroxylase 100%
• Mutant Alleles 40%
• Molecular Characterization 20%
• Transcription Factor 20%
• Liver 20%
• Binding Site 20%
• Transcription Factor Sp1 20%
• Sequence Analysis 20%
• Adenosine 20%
• Thymidine 20%
• Autosomal Recessive 20%
• High Prevalence 20%
• Exon 20%
• Promoter Region 20%
• Putative Promoter 20%
• Cataract 20%
• Bile Acids 20%
• Morocco 20%
• Neurological Manifestations 20%
• Exon 4 20%
• Gene Rearrangement 20%
• Definitive Diagnosis 20%
• Major Gene 20%
• Splice Acceptor Site 20%
• Moroccan Jews 20%
• Guanidine 20%
• Premature Atherosclerosis 20%
• Guanosine 20%
• Gene Structure 20%
• Cytosine 20%
• Tendon Xanthomas 20%
• Sterol Intermediates 20%
• Single-strand Conformation Polymorphism 20%
• Blotting 20%

Biochemistry, Genetics and Molecular Biology

• CYP27A1 100%
• Allele 66%
• Exon 66%
• Intron 66%
• Binding Site 66%
• Transcription Factors 33%
• Promoter Region 33%
• Prevalence 33%
• Sterol 33%
• Bile Acid 33%
• Protein Sequencing 33%
• Shotgun Sequencing 33%
• Gene Structure 33%
• Autosomal Recessive Disorder 33%
• Major Gene 33%
• Gene Rearrangement 33%
• Sp1 Transcription Factor 33%
• Messenger RNA 33%
• Guanosine 33%
• Cytosine 33%
• Thymidine 33%
• Adenosine 33%