Novel mutations in the gh gene (gh1) uncover putative splicing regulatory elements

Keyphrases

• Exon 3 100%
• Novel mutation 100%
• Splicing Regulatory Elements 100%
• Exon 50%
• Isolated GH Deficiency 50%
• In Cis 50%
• Exon Splicing 50%
• In(III) 25%
• Autosomal Dominant 25%
• Dominant Negative 25%
• Splice Isoforms 25%
• Gene Conversion 25%
• Homologous Genes 25%
• In Silico Analysis 25%
• Exonic Splicing Enhancer 25%
• Deficiency Cases 25%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Regulatory Element 100%
• Isoform 50%
• Intron 12%
• Autosomal Dominant Inheritance 12%
• RNA Processing 12%
• Gene Conversion 12%
• Enhancer Region 12%
• Messenger RNA 12%