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16 in total

1. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.

Authors: S Ulick; J Z Wang; D H Morton
Journal: J Clin Endocrinol Metab Date: 1992-06 Impact factor: 5.958

2. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

Authors: L Pascoe; K M Curnow; L Slutsker; A Rösler; P C White
Journal: Proc Natl Acad Sci U S A Date: 1992-06-01 Impact factor: 11.205

3. An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.

Authors: H Globerman; A Rösler; R Theodor; M I New; P C White
Journal: N Engl J Med Date: 1988-11-03 Impact factor: 91.245

4. A new doubly substituted sickling haemoglobin: HbS-Oman.

Authors: J V Langdown; D Williamson; C B Knight; D Rubenstein; R W Carrell
Journal: Br J Haematol Date: 1989-03 Impact factor: 6.998

5. Structure and properties of hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the beta-polypeptide chain.

Authors: R M Bookchin; R L Nagel; H M Ranney
Journal: J Biol Chem Date: 1967-01-25 Impact factor: 5.157

6. Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).

Authors: E Mornet; J Dupont; A Vitek; P C White
Journal: J Biol Chem Date: 1989-12-15 Impact factor: 5.157

7. Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes.

Authors: N Monplaisir; G Merault; C Poyart; M D Rhoda; C Craescu; M Vidaud; F Galacteros; Y Blouquit; J Rosa
Journal: Proc Natl Acad Sci U S A Date: 1986-12 Impact factor: 11.205

8. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

Authors: R P Lifton; R G Dluhy; M Powers; G M Rich; S Cook; S Ulick; J M Lalouel
Journal: Nature Date: 1992-01-16 Impact factor: 49.962

9. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

Authors: L G Goldfarb; R B Petersen; M Tabaton; P Brown; A C LeBlanc; P Montagna; P Cortelli; J Julien; C Vital; W W Pendelbury
Journal: Science Date: 1992-10-30 Impact factor: 47.728

10. Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

Authors: G Zhang; H Rodriguez; C E Fardella; D A Harris; W L Miller
Journal: Am J Hum Genet Date: 1995-11 Impact factor: 11.025

1 in total

1. Adrenocortical causes of hypertension.

Authors: Andreas Moraitis; Constantine Stratakis
Journal: Int J Hypertens Date: 2011-03-08 Impact factor: 2.420

1 in total