The Metabolic & Molecular Bases of Inherited Disease, Volume 4

a₁AT abnormal achondroplasia activity ADPKD affected albinism allele Alport syndrome amino acid amyloid amyloidosis analysis aortic associated autosomal dominant autosomal recessive binding Biochem Biol Chem bone carbonic anhydrase cardiac cells chain chromosome clinical codon collagen genes congenital defect deficiency deletion Dept diagnosis disorder domain dysplasia EDS type Ehlers-Danlos syndrome encoding endoglin enzyme exon expression extracellular factor FGFR3 fibrils function Genomics hereditary Hum Genet Hum Mol Genet human hypertension hypertrophic cardiomyopathy hypophosphatasia identified individuals keratin kinase linkage liver disease locus Marfan syndrome Medicine melanin melanocytes melanosome metabolic mice missense mutations molecular molecules mouse mRNA muscle muscular dystrophy myosin myotonic dystrophy Nat Genet Natl Acad Sci normal osteogenesis imperfecta patients Pediatrics percent Ph.D phenotype pigment PKD1 PKD2 plasma polycystic kidney disease Proc Natl Acad procollagen Professor protein receptor region renal residues result sarcoglycan sequence serum skeletal SP-B splice structure studies tissue TNSALP transcription transthyretin tyrosinase variant