CBS CFTR FAH GAA Genes associated with diseases that may benefit from early treatment but currently are not tested in conventional NBS ABCD1 ATP7B DHCR7 DMD ELANE Genes associated with diseases that present during childhood and currently lack effective treatment opportunities NBS, newborn screening. ...
5. Cystic Fibrosis: This is an autosomal recessive disorder caused by mutations in the CFTR gene, making it a Mendelian disorder. 6. Hemophilia: This is an X-linked recessive disorder, which also qualifies as a Mendelian disorder. Now, let's summarize the findings: - Sickle Cell Anemia: Me...
The treatment of CF includesphysical therapyto loosen the mucus in the lungs, pancreatic enzymes, and medications to fight dangerous infections of the lungs. CF is caused by mutations in a gene called CFTR (for the cystic fibrosis conductance regulator), which is located on chromosome 7. 2.Cit...
"Alterations" in the polynucleotide of SEQ ID NO:2 or SEQ ID NO:4, as used herein, comprise any alteration in the sequence of polynucleotides encoding Hp24 including deletions, insertions, and point mutations that may be detected using hybridization assays. Included within this definition is the...