作者: David Ruddy , Dennis T. Drayna , Zenta Tsuchihashi , Roger K. Wolff , John N. Feder
DOI:
关键词: Nucleic acid 、 Genetics 、 Antibody 、 Plasmid 、 Biology 、 DNA sequencing 、 Hereditary hemochromatosis 、 Molecular biology 、 Cloning 、 Mutant 、 Gene
摘要: The invention relates generally to the gene, and mutations thereto, that are responsible for disease hereditary hemochromatosis (HH). More particularly, identification, isolation, cloning of DNA sequence corresponding normal mutant HH genes, as well characterization their transcripts gene products. also related methods like screening homozygotes further diagnosis, prenatal therapies disease, including therapeutics, protein antibody based small molecule therapeutics.