Biochemistry Genetics Section 8- Autosomal Recessive Diseases

TOPICS: Albinism, Friedreich ataxia, glycogen storage diseases, hemochromatosis, mucopolysaccharidoses, sickle cell anemia, phenylketonuria, sphingolipidoses, Wilson disease, thalassemias, Kartagener syndrome, autosomal recessive polycystic kidney disease, cystic fibrosis, cystic fibrosis pathogenesis, cystic fibrosis clinical features, cystic fibrosis diagnosis, cystic fibrosis treatment, cystic fibrosis transmembrane regulator (CFTR), Phe508 deletion, misfolded CFTR protein, proteasomal degradation, recurrent sinopulmonary infections, azoospermia, infertility, meconium ileus, sweat chloride test, nasal transepithelial potential difference, Lumacaftor, Ivacaftor, thick mucus
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