Hereditary hemochromatosis gene

Details Hereditary hemochromatosis gene Hereditary hemochromatosis gene

1996-05-23

2000-02-15

Sisson, Bradley L.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 911, 435 912, 536 231, 536 235, 536 2431, 536 2433, 935 1, 935 8, 935 9, 935 76, 935 77, C12Q 168, C12P 1934, C07H 2104, C12N 1500

Patent

active

060251301

ABSTRACT:
The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.

REFERENCES:
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