genetics cpox alas2 autosomal dominant enzyme deficiency hemebiosynthesis variegate porphyria types crispr genetic counseling raav 2/5- pbgd givosiran givlaari porphobilinogen erythropoietic porphyria intermittent porphyria porphyria cutanea tarda biosynthesis disorders porphyria biochemistry twin studies threshold model quantitative traits polygenic spina bifida neural tube defects multifactorial liability heritability familial risk epigenetics digenic retinitis pigmentosa discordance concordance complex traits correlation association mendelian science frizzled adhesion glutamate secretin classification second messengers signalling molecule rhodopsin gpcr transmembrane receptors membrane proteins gprotein gcouplereceptors nonmendelianinheritance nontraditional inheritanceanticipation syndrome triallelic inheritance synergistic heterozygosity digenic inheritance multi-allelic inheritance mitochondrial inheritance uniparental disomy genomic imprinting mosaicism triple repeat expansion inheritance mendelian inheritance nontraditional inheritance
Mehr anzeigen