-
1
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White, P. C., and Speiser, P. W. (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21, 245-291
-
(2000)
Endocr. Rev.
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
79951665862
-
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders
-
Miller, W. L., and Auchus, R. J. (2011) The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr. Rev. 32, 81-151
-
(2011)
Endocr. Rev.
, vol.32
, pp. 81-151
-
-
Miller, W.L.1
Auchus, R.J.2
-
3
-
-
84930003805
-
Human cytochrome P450 enzymes
-
Ortiz de Montellano, P. R., ed Springer, New York
-
Guengerich, F. P. (2015) Human cytochrome P450 enzymes. in Cytochrome P450: Structure, Mechanism, and Biochemistry, 4th Ed. (Ortiz de Montellano, P. R., ed) pp. 523-785, Springer, New York
-
(2015)
Cytochrome P450: Structure, Mechanism, and Biochemistry, 4th Ed.
, pp. 523-785
-
-
Guengerich, F.P.1
-
4
-
-
0020493643
-
Identification of rabbit microsomal cytochrome P-450 isozyme, form 1, as a hepatic progesterone 21-hydroxylase
-
Dieter, H. H., Muller-Eberhard, U., and Johnson, E. F. (1982) Identification of rabbit microsomal cytochrome P-450 isozyme, form 1, as a hepatic progesterone 21-hydroxylase. Biochem. Biophys. Res. Commun. 105, 515-520
-
(1982)
Biochem. Biophys. Res. Commun.
, vol.105
, pp. 515-520
-
-
Dieter, H.H.1
Muller-Eberhard, U.2
Johnson, E.F.3
-
5
-
-
0842313073
-
Cytochrome P450 2D catalyzes steroid 21-hydroxylation in the brain
-
Kishimoto, W., Hiroi, T., Shiraishi, M., Osada, M., Imaoka, S., Kominami, S., Igarashi, T., and Funae, Y. (2004) Cytochrome P450 2D catalyzes steroid 21-hydroxylation in the brain. Endocrinology 145, 699-705
-
(2004)
Endocrinology
, vol.145
, pp. 699-705
-
-
Kishimoto, W.1
Hiroi, T.2
Shiraishi, M.3
Osada, M.4
Imaoka, S.5
Kominami, S.6
Igarashi, T.7
Funae, Y.8
-
6
-
-
84858976886
-
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants
-
Zhao, B., Lei, L., Kagawa, N., Sundaramoorthy, M., Banerjee, S., Nagy, L. D., Guengerich, F. P., and Waterman, M. R. (2012) Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants. J. Biol. Chem. 287, 10613-10622
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 10613-10622
-
-
Zhao, B.1
Lei, L.2
Kagawa, N.3
Sundaramoorthy, M.4
Banerjee, S.5
Nagy, L.D.6
Guengerich, F.P.7
Waterman, M.R.8
-
7
-
-
84873734979
-
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
-
Haider, S., Islam, B., D'Atri, V., Sgobba, M., Poojari, C., Sun, L., Yuen, T., Zaidi, M., and New, M. I. (2013) Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. Proc. Natl. Acad. Sci. U.S.A. 110, 2605-2610
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
, pp. 2605-2610
-
-
Haider, S.1
Islam, B.2
D'Atri, V.3
Sgobba, M.4
Poojari, C.5
Sun, L.6
Yuen, T.7
Zaidi, M.8
New, M.I.9
-
8
-
-
0021914293
-
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
-
White, P. C., Grossberger, D., Onufer, B. J., Chaplin, D. D., New, M. I., Dupont, B., and Strominger, J. L. (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc. Natl. Acad. Sci. U.S.A. 82, 1089-1093
-
(1985)
Proc. Natl. Acad. Sci. U.S.A.
, vol.82
, pp. 1089-1093
-
-
White, P.C.1
Grossberger, D.2
Onufer, B.J.3
Chaplin, D.D.4
New, M.I.5
Dupont, B.6
Strominger, J.L.7
-
9
-
-
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., Gotoh, O., and Fujii-Kuriyama, Y. (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc. Natl. Acad. Sci. U.S.A. 83, 2841-2845
-
(1986)
Proc. Natl. Acad. Sci. U.S.A.
, vol.83
, pp. 2841-2845
-
-
Higashi, Y.1
Yoshioka, H.2
Yamane, M.3
Gotoh, O.4
Fujii-Kuriyama, Y.5
-
10
-
-
2642620230
-
Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
-
Therrell, B. L., Jr., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., and Gunn, S. (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 101, 583-590
-
(1998)
Pediatrics
, vol.101
, pp. 583-590
-
-
Therrell, B.L.1
Berenbaum, S.A.2
Manter-Kapanke, V.3
Simmank, J.4
Korman, K.5
Prentice, L.6
Gonzalez, J.7
Gunn, S.8
-
11
-
-
67349270927
-
The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease
-
Bratland, E., Bredholt, G., Mellgren, G., Knappskog, P. M., Mozes, E., and Husebye, E. S. (2009) The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's disease. J. Autoimmun. 33, 58-67
-
(2009)
J. Autoimmun.
, vol.33
, pp. 58-67
-
-
Bratland, E.1
Bredholt, G.2
Mellgren, G.3
Knappskog, P.M.4
Mozes, E.5
Husebye, E.S.6
-
12
-
-
79955868223
-
Why human cytochrome P450c21 is a progesterone 21-hydroxylase
-
Mizrachi, D., Wang, Z., Sharma, K. K., Gupta, M. K., Xu, K., Dwyer, C. R., and Auchus, R. J. (2011) Why human cytochrome P450c21 is a progesterone 21-hydroxylase. Biochemistry 50, 3968-3974
-
(2011)
Biochemistry
, vol.50
, pp. 3968-3974
-
-
Mizrachi, D.1
Wang, Z.2
Sharma, K.K.3
Gupta, M.K.4
Xu, K.5
Dwyer, C.R.6
Auchus, R.J.7
-
13
-
-
84866133140
-
Minor activities and transition state properties of the human steroid hydroxylases cytochromes P450c17 and P450c21, from reactions observed with deuterium-labeled substrates
-
Yoshimoto, F. K., Zhou, Y., Peng, H. M., Stidd, D., Yoshimoto, J. A., Sharma, K. K., Matthew, S., and Auchus, R. J. (2012) Minor activities and transition state properties of the human steroid hydroxylases cytochromes P450c17 and P450c21, from reactions observed with deuterium-labeled substrates. Biochemistry 51, 7064-7077
-
(2012)
Biochemistry
, vol.51
, pp. 7064-7077
-
-
Yoshimoto, F.K.1
Zhou, Y.2
Peng, H.M.3
Stidd, D.4
Yoshimoto, J.A.5
Sharma, K.K.6
Matthew, S.7
Auchus, R.J.8
-
14
-
-
0019332509
-
Studies on the steroid hydroxylation system in adrenal cortex microsomes. Purification and characterization of cytochrome P-450 specific for steroid C-21 hydroxylation
-
Kominami, S., Ochi, H., Kobayashi, Y., and Takemori, S. (1980) Studies on the steroid hydroxylation system in adrenal cortex microsomes. Purification and characterization of cytochrome P-450 specific for steroid C-21 hydroxylation. J. Biol. Chem. 255, 3386-3394
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 3386-3394
-
-
Kominami, S.1
Ochi, H.2
Kobayashi, Y.3
Takemori, S.4
-
15
-
-
33646030623
-
Purification and characterization of bovine steroid 21-hydroxylase (P450c21) efficiently expressed in Escherichia coli
-
Arase, M., Waterman, M. R., and Kagawa, N. (2006) Purification and characterization of bovine steroid 21-hydroxylase (P450c21) efficiently expressed in Escherichia coli. Biochem. Biophys. Res. Commun. 344, 400-405
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.344
, pp. 400-405
-
-
Arase, M.1
Waterman, M.R.2
Kagawa, N.3
-
16
-
-
84916211937
-
Epoxidation activities of human cytochromes p450c17 and p450c21
-
Yoshimoto, F. K., Peng, H. M., Zhang, H., Anderson, S. M., and Auchus, R. J. (2014) Epoxidation activities of human cytochromes p450c17 and p450c21. Biochemistry 53, 7531-7540
-
(2014)
Biochemistry
, vol.53
, pp. 7531-7540
-
-
Yoshimoto, F.K.1
Peng, H.M.2
Zhang, H.3
Anderson, S.M.4
Auchus, R.J.5
-
17
-
-
0035815628
-
The rate-determining step in P450 C21-catalyzing reactions in a membrane-reconstituted system
-
Kominami, S., Owaki, A., Iwanaga, T., Tagashira-Ikushiro, H., and Yamazaki, T. (2001) The rate-determining step in P450 C21-catalyzing reactions in a membrane-reconstituted system. J. Biol. Chem. 276, 10753-10758
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 10753-10758
-
-
Kominami, S.1
Owaki, A.2
Iwanaga, T.3
Tagashira-Ikushiro, H.4
Yamazaki, T.5
-
18
-
-
0003466962
-
-
Wiley, New York
-
Daniels, F., and Alberty, R. A. (1966) Physical Chemistry, 3rd Ed., pp. 330-331, Wiley, New York
-
(1966)
Physical Chemistry, 3rd Ed.
, pp. 330-331
-
-
Daniels, F.1
Alberty, R.A.2
-
19
-
-
0031822496
-
Role of the alanine at position 363 of cytochrome P450 2B2 in influencing the NADPH- and hydroperoxide-supported activities
-
Hanna, I. H., Teiber, J. F., Kokones, K. L., and Hollenberg, P. F. (1998) Role of the alanine at position 363 of cytochrome P450 2B2 in influencing the NADPH- and hydroperoxide-supported activities. Arch. Biochem. Biophys. 350, 324-332
-
(1998)
Arch. Biochem. Biophys.
, vol.350
, pp. 324-332
-
-
Hanna, I.H.1
Teiber, J.F.2
Kokones, K.L.3
Hollenberg, P.F.4
-
20
-
-
84922284712
-
-
Hayes, A. W., and Kruger, C. L., eds CRC Press, Inc., Boca Raton, FL
-
Guengerich, F. P. (2014) in Hayes' Principles and Methods of Toxicology, 6th Ed. (Hayes, A. W., and Kruger, C. L., eds) pp. 1905-1964, CRC Press, Inc., Boca Raton, FL
-
(2014)
Hayes' Principles and Methods of Toxicology, 6th Ed.
, pp. 1905-1964
-
-
Guengerich, F.P.1
-
21
-
-
0038414570
-
Multiparametric scaling of diffraction intensities
-
Otwinowski, Z., Borek, D., Majewski, W., and Minor, W. (2003) Multiparametric scaling of diffraction intensities. Acta Crystallogr. A 59, 228-234
-
(2003)
Acta Crystallogr. A
, vol.59
, pp. 228-234
-
-
Otwinowski, Z.1
Borek, D.2
Majewski, W.3
Minor, W.4
-
23
-
-
0028103275
-
The CCP4 suite: Programs for protein crystallography
-
Number 4
-
Collaborative Computational Project, Number 4 (1994) The CCP4 suite: programs for protein crystallography. Acta Crystallogr. D Biol. Crystallogr. 50, 760-763
-
(1994)
Acta Crystallogr. D Biol. Crystallogr.
, vol.50
, pp. 760-763
-
-
-
24
-
-
79953763877
-
REFMAC5 for the refinement of macromolecular crystal structures
-
Murshudov, G. N., Skubák, P., Lebedev, A. A., Pannu, N. S., Steiner, R. A., Nicholls, R. A., Winn, M. D., Long, F., and Vagin, A. A. (2011) REFMAC5 for the refinement of macromolecular crystal structures. Acta Crystallogr. D Biol. Crystallogr. 67, 355-367
-
(2011)
Acta Crystallogr. D Biol. Crystallogr.
, vol.67
, pp. 355-367
-
-
Murshudov, G.N.1
Skubák, P.2
Lebedev, A.A.3
Pannu, N.S.4
Steiner, R.A.5
Nicholls, R.A.6
Winn, M.D.7
Long, F.8
Vagin, A.A.9
-
26
-
-
4444221565
-
UCSF Chimera: A visualization system for exploratory research and analysis
-
Pettersen, E. F., Goddard, T. D., Huang, C. C., Couch, G. S., Greenblatt, D. M., Meng, E. C., and Ferrin, T. E. (2004) UCSF Chimera: a visualization system for exploratory research and analysis. J. Comput. Chem. 25, 1605-1612
-
(2004)
J. Comput. Chem.
, vol.25
, pp. 1605-1612
-
-
Pettersen, E.F.1
Goddard, T.D.2
Huang, C.C.3
Couch, G.S.4
Greenblatt, D.M.5
Meng, E.C.6
Ferrin, T.E.7
-
27
-
-
0028846823
-
A universal approach to the expression of human and rabbit cytochrome P450s of the 2C subfamily in Escherichia coli
-
Richardson, T. H., Jung, F., Griffin, K. J., Wester, M., Raucy, J. L., Kemper, B., Bornheim, L. M., Hassett, C., Omiecinski, C. J., and Johnson, E. F. (1995) A universal approach to the expression of human and rabbit cytochrome P450s of the 2C subfamily in Escherichia coli. Arch. Biochem. Biophys. 323, 87-96
-
(1995)
Arch. Biochem. Biophys.
, vol.323
, pp. 87-96
-
-
Richardson, T.H.1
Jung, F.2
Griffin, K.J.3
Wester, M.4
Raucy, J.L.5
Kemper, B.6
Bornheim, L.M.7
Hassett, C.8
Omiecinski, C.J.9
Johnson, E.F.10
-
28
-
-
78651165715
-
The carbon monoxide-binding pigment of liver microsomes: I. Evidence for its hemoprotein nature
-
Omura, T., and Sato, R. (1964) The carbon monoxide-binding pigment of liver microsomes: I. Evidence for its hemoprotein nature. J. Biol. Chem. 239, 2370-2378
-
(1964)
J. Biol. Chem.
, vol.239
, pp. 2370-2378
-
-
Omura, T.1
Sato, R.2
-
29
-
-
0028358220
-
Expression of modified human cytochrome P450 1A2 in Escherichia coli: Stabilization, purification, spectral characterization, and catalytic activities of the enzyme
-
Sandhu, P., Guo, Z., Baba, T., Martin, M. V., Tukey, R. H., and Guengerich, F. P. (1994) Expression of modified human cytochrome P450 1A2 in Escherichia coli: stabilization, purification, spectral characterization, and catalytic activities of the enzyme. Arch. Biochem. Biophys. 309, 168-177
-
(1994)
Arch. Biochem. Biophys.
, vol.309
, pp. 168-177
-
-
Sandhu, P.1
Guo, Z.2
Baba, T.3
Martin, M.V.4
Tukey, R.H.5
Guengerich, F.P.6
-
30
-
-
0037228101
-
The enantiomer of progesterone (ent-progesterone) is a competitive inhibitor of human cytochromes P450c17 and P450c21
-
Auchus, R. J., Sampath Kumar, A., Andrew Boswell, C., Gupta, M. K., Bruce, K., Rath, N. P., and Covey, D. F. (2003) The enantiomer of progesterone (ent-progesterone) is a competitive inhibitor of human cytochromes P450c17 and P450c21. Arch. Biochem. Biophys. 409, 134-144
-
(2003)
Arch. Biochem. Biophys.
, vol.409
, pp. 134-144
-
-
Auchus, R.J.1
Sampath Kumar, A.2
Andrew Boswell, C.3
Gupta, M.K.4
Bruce, K.5
Rath, N.P.6
Covey, D.F.7
-
32
-
-
0020345922
-
Deuterium and tritium kinetic isotope effects on initial rates
-
Northrop, D. B. (1982) Deuterium and tritium kinetic isotope effects on initial rates. Methods Enzymol. 87, 607-625
-
(1982)
Methods Enzymol.
, vol.87
, pp. 607-625
-
-
Northrop, D.B.1
-
33
-
-
80054078476
-
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
-
Sievers, F., Wilm, A., Dineen, D., Gibson, T. J., Karplus, K., Li, W., Lopez, R., McWilliam, H., Remmert, M., Söding, J., Thompson, J. D., and Higgins, D. G. (2011) Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol. Syst. Biol. 7, 539
-
(2011)
Mol. Syst. Biol.
, vol.7
, pp. 539
-
-
Sievers, F.1
Wilm, A.2
Dineen, D.3
Gibson, T.J.4
Karplus, K.5
Li, W.6
Lopez, R.7
McWilliam, H.8
Remmert, M.9
Söding, J.10
Thompson, J.D.11
Higgins, D.G.12
-
34
-
-
84879053714
-
Structural diversity of eukaryotic membrane cytochromes P450
-
Johnson, E. F., and Stout, C. D. (2013) Structural diversity of eukaryotic membrane cytochromes P450. J. Biol. Chem. 288, 17082-17090
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 17082-17090
-
-
Johnson, E.F.1
Stout, C.D.2
-
35
-
-
79953003310
-
Cytochrome P450 7A1 cholesterol 7α-hydroxylation: Individual reaction steps in the catalytic cycle and rate-limiting ferric iron reduction
-
Shinkyo, R., and Guengerich, F. P. (2011) Cytochrome P450 7A1 cholesterol 7α-hydroxylation: individual reaction steps in the catalytic cycle and rate-limiting ferric iron reduction. J. Biol. Chem. 286, 4632-4643
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 4632-4643
-
-
Shinkyo, R.1
Guengerich, F.P.2
-
36
-
-
4143133130
-
Rate-limiting steps in oxidations catalyzed by rabbit cytochrome P450 1A2
-
Guengerich, F. P., Krauser, J. A., and Johnson, W. W. (2004) Rate-limiting steps in oxidations catalyzed by rabbit cytochrome P450 1A2. Biochemistry 43, 10775-10788
-
(2004)
Biochemistry
, vol.43
, pp. 10775-10788
-
-
Guengerich, F.P.1
Krauser, J.A.2
Johnson, W.W.3
-
37
-
-
0029902679
-
Program DYNAFIT for the analysis of enzyme kinetic data: Application to HIV protease
-
Kuzmic, P. (1996) Program DYNAFIT for the analysis of enzyme kinetic data: application to HIV protease. Anal. Biochem. 237, 260-273
-
(1996)
Anal. Biochem.
, vol.237
, pp. 260-273
-
-
Kuzmic, P.1
-
38
-
-
0033551102
-
Explanation of pre-steady-state kinetics and decreased burst amplitude of HIV-1 reverse transcriptase at sites of modified DNA bases with an additional, nonproductive enzyme-DNA-nucleotide complex
-
Furge, L. L., and Guengerich, F. P. (1999) Explanation of pre-steady-state kinetics and decreased burst amplitude of HIV-1 reverse transcriptase at sites of modified DNA bases with an additional, nonproductive enzyme-DNA-nucleotide complex. Biochemistry 38, 4818-4825
-
(1999)
Biochemistry
, vol.38
, pp. 4818-4825
-
-
Furge, L.L.1
Guengerich, F.P.2
-
39
-
-
63649090634
-
Versatility of Y-family Sulfolobus solfataricus DNA polymerase Dpo4 in translesion synthesis past bulky N2 -alkylguanine adducts
-
Zhang, H., Eoff, R. L., Kozekov, I. D., Rizzo, C. J., Egli, M., and Guengerich, F. P. (2009) Versatility of Y-family Sulfolobus solfataricus DNA polymerase Dpo4 in translesion synthesis past bulky N2 -alkylguanine adducts. J. Biol. Chem. 284, 3563-3576
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 3563-3576
-
-
Zhang, H.1
Eoff, R.L.2
Kozekov, I.D.3
Rizzo, C.J.4
Egli, M.5
Guengerich, F.P.6
-
40
-
-
0344085885
-
Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis
-
Ohlsson, G., Müller, J., Skakkebaek, N. E., and Schwartz, M. (1999) Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis. Hum. Mutat. 13, 482-486
-
(1999)
Hum. Mutat.
, vol.13
, pp. 482-486
-
-
Ohlsson, G.1
Müller, J.2
Skakkebaek, N.E.3
Schwartz, M.4
-
41
-
-
0033533579
-
Functional analysis of four CYP21 mutations from Spanish patients with congenital adrenal hyperplasia
-
Nunez, B. S., Lobato, M. N., White, P. C., and Meseguer, A. (1999) Functional analysis of four CYP21 mutations from Spanish patients with congenital adrenal hyperplasia. Biochem. Biophys. Res. Commun. 262, 635-637
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.262
, pp. 635-637
-
-
Nunez, B.S.1
Lobato, M.N.2
White, P.C.3
Meseguer, A.4
-
42
-
-
0023354308
-
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia
-
Rodrigues, N. R., Dunham, I., Yu, C. Y., Carroll, M. C., Porter, R. R., and Campbell, R. D. (1987) Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J. 6, 1653-1661
-
(1987)
EMBO J.
, vol.6
, pp. 1653-1661
-
-
Rodrigues, N.R.1
Dunham, I.2
Yu, C.Y.3
Carroll, M.C.4
Porter, R.R.5
Campbell, R.D.6
-
43
-
-
10844268381
-
The new CCP4 Coordinate Library as a toolkit for the design of coordinate-related applications in protein crystallography
-
Krissinel, E. B., Winn, M. D., Ballard, C. C., Ashton, A. W., Patel, P., Potterton, E. A., McNicholas, S. J., Cowtan, K. D., and Emsley, P. (2004) The new CCP4 Coordinate Library as a toolkit for the design of coordinate-related applications in protein crystallography. Acta Crystallogr. D Biol. Crystallogr. 60, 2250-2255
-
(2004)
Acta Crystallogr. D Biol. Crystallogr.
, vol.60
, pp. 2250-2255
-
-
Krissinel, E.B.1
Winn, M.D.2
Ballard, C.C.3
Ashton, A.W.4
Patel, P.5
Potterton, E.A.6
McNicholas, S.J.7
Cowtan, K.D.8
Emsley, P.9
-
44
-
-
45149125300
-
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients
-
Soardi, F. C., Barbaro, M., Lau, I. F., Lemos-Marini, S. H., Baptista, M. T., Guerra-Junior, G., Wedell, A., Lajic, S., and de Mello, M. P. (2008) Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. J. Clin. Endocrinol. Metab. 93, 2416-2420
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 2416-2420
-
-
Soardi, F.C.1
Barbaro, M.2
Lau, I.F.3
Lemos-Marini, S.H.4
Baptista, M.T.5
Guerra-Junior, G.6
Wedell, A.7
Lajic, S.8
De Mello, M.P.9
-
45
-
-
77749246314
-
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier
-
Tardy, V., Menassa, R., Sulmont, V., Lienhardt-Roussie, A., Lecointre, C., Brauner, R., David, M., and Morel, Y. (2010) Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. J. Clin. Endocrinol. Metab. 95, 1288-1300
-
(2010)
J. Clin. Endocrinol. Metab.
, vol.95
, pp. 1288-1300
-
-
Tardy, V.1
Menassa, R.2
Sulmont, V.3
Lienhardt-Roussie, A.4
Lecointre, C.5
Brauner, R.6
David, M.7
Morel, Y.8
-
46
-
-
0033309230
-
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency
-
Billerbeck, A. E., Bachega, T. A., Frazatto, E. T., Nishi, M. Y., Goldberg, A. C., Marin, M. L., Madureira, G., Monte, O., Arnhold, I. J., and Mendonca, B. B. (1999) A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 84, 2870-2872
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 2870-2872
-
-
Billerbeck, A.E.1
Bachega, T.A.2
Frazatto, E.T.3
Nishi, M.Y.4
Goldberg, A.C.5
Marin, M.L.6
Madureira, G.7
Monte, O.8
Arnhold, I.J.9
Mendonca, B.B.10
-
47
-
-
79952122342
-
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency
-
Yu, Y., Wang, J., Huang, X., Wang, Y., Yang, P., Li, J., Tsuei, S. H., Shen, Y., and Fu, Q. (2011) Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency. Genet. Test. Mol. Biomarkers 15, 137-142
-
(2011)
Genet. Test. Mol. Biomarkers
, vol.15
, pp. 137-142
-
-
Yu, Y.1
Wang, J.2
Huang, X.3
Wang, Y.4
Yang, P.5
Li, J.6
Tsuei, S.H.7
Shen, Y.8
Fu, Q.9
|