Table 40-7 (pg 486) DISEASE

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Achondroplasia (OMIM 100800)

Mutations in the gene encoding the fibroblast growth factor receptor 3

Familial hypercholesterolemia (OMIM 143890)

Mutations in the gene encoding the LDL receptor

Cystic fibrosis (OMIM 219700)

Mutations in the gene encoding the CFTR protein, a Cl- transporter

Congenital long QT syndrome (OMIM 192500)

Mutations in genes encoding ion channels in the heart

Wilson disease (OMIM 277900)

Mutations in the gene encoding a copper-dependent ATPase

I-cell disease (OMIM 252500)

Mutations in the gene encoding GIcNAc phosphoransferase, resulting in absence of the Man 6-P signal for lysosomal localization of certain hydrolases

Hereditary spherocytosis (OMIM 182900)

Mutations in the genes encoding spectrin or other structural proteins in the red cell membrane

Metastasis of cancer cells

Abnormalities in the oligosaccharide chains of membrane glycoproteins and glycolipids are thought to be of importance

Paroxysmal nocturnal hemoglobinuria (OMIM 311770)

Mutation resulting in deficient attachment of the GPI anchor to certain proteins of the red cell membrane