publication . Article . 2015

Genetic heterogeneity of retinitis pigmentosa

Hartono, Hartono;
Open Access Indonesian
  • Published: 18 Nov 2015 Journal: Journal of the Medical Sciences (Berkala ilmu Kedokteran) (issn: 2356-3931, eissn: 0126-1312, Copyright policy)
  • Publisher: Journal of the Medical Sciences (Berkala ilmu Kedokteran)
Abstract
Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogeneity, the heterogeneities of chronic hemolytic anemia caused by beta-globin abnormality, chronic hemolytic anemia due to thalassemias, and mucopolysaccharidoses have been cho...
Subjects
Medical Subject Headings: eye diseasescongenital, hereditary, and neonatal diseases and abnormalitiessense organsgenetic structuresotorhinolaryngologic diseases
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