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PubMed 8533762 A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is 1.24 KB 2015-11-27 11 14
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PubMed 1303173 Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirel 1.57 KB 2015-11-18 11 5
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PubMed 8162071 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of 820 Bytes 2015-11-27 10 3
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PubMed 6323533 A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1. A new apolipoprotein E (apo E) phenotype has been demonstrated in a Finnish hypertr 2.26 KB 2015-12-05 11 3
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PubMed 3722385 Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant late-onset dis 1.22 KB 2015-11-27 4 3
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PubMed 3544759 Apolipoprotein E polymorphism in health and disease. Genetic polymorphism of apolipoprotein (apo) E is controlled by three common (epsilon 2, epsilon 2, epsilon 4) and several rare alleles (e.g., epsi 1.33 KB 2015-03-12 2 5
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PubMed 3690877 Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue. Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apol 889 Bytes 2015-03-12 3 3
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PubMed 3265398 Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). We have determined the molecular 1.36 KB 2015-11-27 4 3
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PubMed 2492100 At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal deg 1.5 KB 2015-11-26 7 3
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PubMed 2564729 Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. We report the characterization of a mutation in the phenylala 1.18 KB 2015-03-12 4 5
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