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Cystic fibrosis
- ... the genes on chromosome 7 is called the cystic fibrosis transmembrane conductance regulator because variants in this gene can cause cystic fibrosis . The symbol for this gene is CFTR . Genes ...
- ... example, when people say that someone has “the cystic fibrosis gene,” they are usually referring to a version ... causes the disease. All people, including those without cystic fibrosis, have a version of the CFTR gene. Learn ...
- ... Some disorders, such as sickle cell disease and cystic fibrosis , are caused by variants (also known as mutations) ...
- ... variants (mutations) in a single gene, such as cystic fibrosis and sickle cell disease . While a family health ...
- ... seen in every generation of an affected family. cystic fibrosis , sickle cell disease X-linked dominant X-linked ...
- ... congenital disorder of glycosylation , also called PMM2 -CDG Cystic fibrosis D-bifunctional protein deficiency Dihydrolipoamide dehydrogenase deficiency Familial ...
- ... of diseases, including single-gene disorders such as cystic fibrosis , hemophilia , and sickle cell disease . It also holds ...
- ... s carrier status for less common conditions, including cystic fibrosis and sickle cell disease . A carrier is someone ...