The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

Keyphrases

• 46,XY DSD 100%
• HSD17B3 100%
• Aberrant Splicing 100%
• Exon 10 60%
• Skipping 40%
• Testicle 40%
• Nucleic Acids 20%
• Enzymatic Activity 20%
• Founder mutation 20%
• Amino Acid Residues 20%
• Conserved Amino Acids 20%
• Consanguineous Family 20%
• Haplotype Analysis 20%
• Clinical Characteristics 20%
• Gene Transcription 20%
• Molecular Characteristics 20%
• Cortisol 20%
• Hydroxysteroid Dehydrogenase 20%
• Androstenedione 20%
• Whole Exome Sequencing 20%
• Sanger Sequencing 20%
• Novel mutation 20%
• Mineralocorticoid 20%
• XY Karyotype 20%
• 46,XY Disorders of Sex Development 20%
• Protein Isoforms 20%
• Low Testosterone 20%
• Ambiguous Genitalia 20%
• Chromosome 9 20%
• Relevant Proteins 20%
• Testosterone Insufficiency 20%

Biochemistry, Genetics and Molecular Biology

• HSD17B3 (Gene) 100%
• Exon 75%
• Testosterone 50%
• Enzyme 25%
• Amino Acids 25%
• Allele 25%
• Enzyme Activity 25%
• Haplotype 25%
• Isoform 25%
• RNA 25%
• Exome Sequencing 25%
• Nucleic Acid 25%
• Karyotype 25%
• Genetic Transcription 25%
• Mineralocorticoid 25%
• Chromosome 9 25%
• Dideoxynucleotide Sequencing 25%
• Cortisol 25%
• 17-Beta-Hydroxysteroid Dehydrogenase 25%
• Sexual Development 25%

Neuroscience

• Exon 100%
• Testosterone 66%
• Amino Acid 33%
• Haplotype 33%
• Cortisol 33%
• Karyotype 33%
• Genetic Transcription 33%
• Exome Sequencing 33%
• Mineralocorticoid 33%
• Enzyme Activity 33%
• Nucleic Acid 33%
• Enzymes 33%
• Chromosome 9 33%
• Dideoxynucleotide Sequencing 33%
• Androstenedione 33%
• Testosterone 17beta Dehydrogenase 33%