-
1
-
-
0021314494
-
Recent advances in 21-hydroxylase deficiency
-
New MI, Levine LS. Recent advances in 21-hydroxylase deficiency-. Annu Rev Med 1984;35:649-63.
-
(1984)
Annu Rev Med
, vol.35
, pp. 649-663
-
-
New, M.I.1
Levine, L.S.2
-
2
-
-
0028206910
-
21-hydroxylase deficiency congenital adrenal hyperplasia
-
New MI. 21-hydroxylase deficiency congenital adrenal hyperplasia. J Steroid Biochem Molec Biol 1994;48:15-22.
-
(1994)
J Steroid Biochem Molec Biol
, vol.48
, pp. 15-22
-
-
New, M.I.1
-
3
-
-
0042901202
-
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
-
Higashi Y, Yoshioka H, Yamane M, et al. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986;83:2841-5.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2841-2845
-
-
Higashi, Y.1
Yoshioka, H.2
Yamane, M.3
-
5
-
-
0023354308
-
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia
-
Rodrigues NR, Dunham I, Yu CY, et al. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J 1987;6:1653-61.
-
(1987)
EMBO J
, vol.6
, pp. 1653-1661
-
-
Rodrigues, N.R.1
Dunham, I.2
Yu, C.Y.3
-
6
-
-
3142610292
-
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation
-
White PC, New MI, Dupont B. HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 1984;81:7505-9.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 7505-7509
-
-
White, P.C.1
New, M.I.2
Dupont, B.3
-
7
-
-
0022136368
-
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region
-
Carroll MC, Palsdottir A, Belt KT, Porter RR. Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region. EMBO J 1985;4:2547-52.
-
(1985)
EMBO J
, vol.4
, pp. 2547-2552
-
-
Carroll, M.C.1
Palsdottir, A.2
Belt, K.T.3
Porter, R.R.4
-
9
-
-
0023915848
-
Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: Implications for steroid 21-hydroxylase deficiency
-
Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988;42:17-25.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 17-25
-
-
Higashi, Y.1
Tanae, A.2
Inoue, H.3
Fujii-Kuriyama, Y.4
-
10
-
-
0023258576
-
Molecular and clinical advances in congenital adrenal hyperplasia
-
Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 1987;111:1-17.
-
(1987)
J Pediatr
, vol.111
, pp. 1-17
-
-
Miller, W.L.1
Levine, L.S.2
-
11
-
-
0025753960
-
Effects of individual mutations in the P-450 (C21) pseudogene on the P450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency
-
Higashi Y, Hiromasa T, Tanae A, et al. Effects of individual mutations in the P-450 (C21) pseudogene on the P450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem 1991;109:638-44.
-
(1991)
J Biochem
, vol.109
, pp. 638-644
-
-
Higashi, Y.1
Hiromasa, T.2
Tanae, A.3
-
12
-
-
0026020826
-
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
-
Mornet E, Cre'te' P, Kuttenn F, et al. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 1991;48:79-88.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 79-88
-
-
Mornet, E.1
Crete, P.2
Kuttenn, F.3
-
13
-
-
0025773734
-
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
-
Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1991;5:685-92.
-
(1991)
Mol Endocrinol
, vol.5
, pp. 685-692
-
-
Tusie-Luna, M.T.1
Speiser, P.W.2
Dumic, M.3
New, M.I.4
White, P.C.5
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