-
1
-
-
0023683485
-
Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450
-
Yanase T, Kagimoto M, Matsui N, Simpson ER & Waterman MR. Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450. Molecular and Cellular Endocrinology 1988 59 249-253.
-
(1988)
Molecular and Cellular Endocrinology
, vol.59
, pp. 249-253
-
-
Yanase, T.1
Kagimoto, M.2
Matsui, N.3
Simpson, E.R.4
Waterman, M.R.5
-
2
-
-
0033346398
-
Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase): Insights into reaction mechanisms and effects of mutations
-
Auchus RJ & Miller WL. Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. Molecular Endocrinology 1999 13 1169-1182.
-
(1999)
Molecular Endocrinology
, vol.13
, pp. 1169-1182
-
-
Auchus, R.J.1
Miller, W.L.2
-
3
-
-
0035032081
-
The genetics, pathophysiology, and management of human deficiencies of P450c17
-
Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinology and Metabolism Clinics of North America 2001 30 101-119.
-
(2001)
Endocrinology and Metabolism Clinics of North America
, vol.30
, pp. 101-119
-
-
Auchus, R.J.1
-
4
-
-
33748742537
-
Phenotype-genotype correlation in eight Chinese 17α-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene
-
Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G & Li X. Phenotype-genotype correlation in eight Chinese 17α-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. Journal of Clinical Endocrinology and Metabolism 2006 91 3619-3625.
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 3619-3625
-
-
Yang, J.1
Cui, B.2
Sun, S.3
Shi, T.4
Zheng, S.5
Bi, Y.6
Liu, J.7
Zhao, Y.8
Chen, J.9
Ning, G.10
Li, X.11
-
5
-
-
0842291524
-
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency
-
& Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group
-
Costa-Santos M, Kater CE, Auchus RJ & Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 2004 89 49-60.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, pp. 49-60
-
-
Costa-Santos, M.1
Kater, C.E.2
Auchus, R.J.3
-
6
-
-
1542359478
-
Adrenarche - physiology, biochemistry and human disease
-
Auchus RJ & Rainey WE. Adrenarche - physiology, biochemistry and human disease. Clinical Endocrinology 2004 60 288-296.
-
(2004)
Clinical Endocrinology
, vol.60
, pp. 288-296
-
-
Auchus, R.J.1
Rainey, W.E.2
-
7
-
-
0001358982
-
A syndrome characterized by primary ovarian insufficiency and decreased stature: Report of 11 cases with a digression on hormonal control of axillary and pubic hair
-
Albright F, Smith PH & Fraser R. A syndrome characterized by primary ovarian insufficiency and decreased stature: report of 11 cases with a digression on hormonal control of axillary and pubic hair. American Journal of the Medical Sciences 1942 204 625-648.
-
(1942)
American Journal of the Medical Sciences
, vol.204
, pp. 625-648
-
-
Albright, F.1
Smith, P.H.2
Fraser, R.3
-
8
-
-
0019217875
-
Delayed pubarche in adolescents with adrenal insufficiency
-
Hochberg Z. Delayed pubarche in adolescents with adrenal insufficiency. Clinical Pediatrics 1980 19 827-828.
-
(1980)
Clinical Pediatrics
, vol.19
, pp. 827-828
-
-
Hochberg, Z.1
-
10
-
-
0027375791
-
Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17-hydroxylase deficiency
-
Monno S, Ogawa H, Date T, Fujioka M, Miller WL & Kobayashi M. Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17-hydroxylase deficiency. Journal of Biological Chemistry 1993 268 25811-25817.
-
(1993)
Journal of Biological Chemistry
, vol.268
, pp. 25811-25817
-
-
Monno, S.1
Ogawa, H.2
Date, T.3
Fujioka, M.4
Miller, W.L.5
Kobayashi, M.6
-
12
-
-
0842269793
-
Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: Direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells
-
Costa-Santos M, Kater CE, Dias EP & Auchus RJ. Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells. Journal of Clinical Endocrinology and Metabolism 2004 89 43-48.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, pp. 43-48
-
-
Costa-Santos, M.1
Kater, C.E.2
Dias, E.P.3
Auchus, R.J.4
-
13
-
-
23044472310
-
17α-Hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene
-
Müssig K, Kaltenbach S, Machicao F, Maser-Gluth C, Hartmann MF, Wudy SA, Schnauder G, Häring HU, Seif FJ & Gallwitz B. 17α-Hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene. Journal of Clinical Endocrinology and Metabolism 2005 90 4362-4365.
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, pp. 4362-4365
-
-
Müssig, K.1
Kaltenbach, S.2
Machicao, F.3
Maser-Gluth, C.4
Hartmann, M.F.5
Wudy, S.A.6
Schnauder, G.7
Häring, H.U.8
Seif, F.J.9
Gallwitz, B.10
-
14
-
-
0036885001
-
Differential inhibition of 17α-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency
-
Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL & De Jong FH. Differential inhibition of 17α-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. Journal of Clinical Endocrinology and Metabolism 2002 87 5714-5721.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 5714-5721
-
-
Van Den Akker, E.L.1
Koper, J.W.2
Boehmer, A.L.3
Themmen, A.P.4
Verhoef-Post, M.5
Timmerman, M.A.6
Otten, B.J.7
Drop, S.L.8
De Jong, F.H.9
-
15
-
-
0018405248
-
Adrenocortical function in puberty: Serum ACTH, cortisol and dehydroepiandrosterone in girls and boys
-
Apter D, Pakarinen A, Hammond GL & Vihko R. Adrenocortical function in puberty: serum ACTH, cortisol and dehydroepiandrosterone in girls and boys. Acta Paediatrica Scandinavica 1979 68 599-604.
-
(1979)
Acta Paediatrica Scandinavica
, vol.68
, pp. 599-604
-
-
Apter, D.1
Pakarinen, A.2
Hammond, G.L.3
Vihko, R.4
-
16
-
-
0034853820
-
The longitudinal study of adrenal maturation during gonadal suppression: Evidence that adrenarche is a gradual process
-
Palmert MR, Hayden DL, Mansfield MJ, Crigler JF Jr, Crowley WF Jr, Chandler DW & Boepple PA. The longitudinal study of adrenal maturation during gonadal suppression: evidence that adrenarche is a gradual process. Journal of Clinical Endocrinology and Metabolism 2001 86 4536-4542.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 4536-4542
-
-
Palmert, M.R.1
Hayden, D.L.2
Mansfield, M.J.3
Crigler Jr, J.F.4
Crowley Jr, W.F.5
Chandler, D.W.6
Boepple, P.A.7
-
17
-
-
0022610678
-
Adrenarche and skeletal maturation during luteinizing hormone releasing hormone analogue suppression of gonadarche
-
Wierman ME, Beardsworth DE, Crawford JD, Crigler JF Jr, Mansfield MJ, Bode HH, Boepple PA, Kushner DC & Crowley WF Jr. Adrenarche and skeletal maturation during luteinizing hormone releasing hormone analogue suppression of gonadarche. Journal of Clinical Investigation 1986 77 121-126.
-
(1986)
Journal of Clinical Investigation
, vol.77
, pp. 121-126
-
-
Wierman, M.E.1
Beardsworth, D.E.2
Crawford, J.D.3
Crigler Jr, J.F.4
Mansfield, M.J.5
Bode, H.H.6
Boepple, P.A.7
Kushner, D.C.8
Crowley Jr., W.F.9
-
18
-
-
0017340513
-
Secretion of the adrenal androgen, dehydroepiandrosterone sulfate, during normal infancy, childhood, and adolescence, in sick infants, and in children with endocrinologic abnormalities
-
Reiter EO, Fuldauer VG & Root AW. Secretion of the adrenal androgen, dehydroepiandrosterone sulfate, during normal infancy, childhood, and adolescence, in sick infants, and in children with endocrinologic abnormalities. Pediatrics 1977 90 766-770.
-
(1977)
Pediatrics
, vol.90
, pp. 766-770
-
-
Reiter, E.O.1
Fuldauer, V.G.2
Root, A.W.3
-
19
-
-
0017280235
-
Plasma adrenal and gonadal sex steroids in human pubertal development
-
Ducharme JR, Forest MG, De Peretti E, Sempe M, Collu R & Bertrand J. Plasma adrenal and gonadal sex steroids in human pubertal development. Journal of Clinical Endocrinology and Metabolism 1976 42 468-476.
-
(1976)
Journal of Clinical Endocrinology and Metabolism
, vol.42
, pp. 468-476
-
-
Ducharme, J.R.1
Forest, M.G.2
De Peretti, E.3
Sempe, M.4
Collu, R.5
Bertrand, J.6
-
20
-
-
0016814045
-
Hormonal changes in puberty III: Correlation of plasma dehydroepiandrosterone, testosterone, FSH, and LH with stages of puberty and bone age in normal boys and girls and in patients with Addison's disease or hypogonadism or with premature or late adrenarche
-
Sizonenko PC & Paunier L. Hormonal changes in puberty III: correlation of plasma dehydroepiandrosterone, testosterone, FSH, and LH with stages of puberty and bone age in normal boys and girls and in patients with Addison's disease or hypogonadism or with premature or late adrenarche. Journal of Clinical Endocrinology and Metabolism 1975 41 894-904.
-
(1975)
Journal of Clinical Endocrinology and Metabolism
, vol.41
, pp. 894-904
-
-
Sizonenko, P.C.1
Paunier, L.2
-
21
-
-
0018953627
-
Evidence for dissociation between adrenarche and gonadarche: Studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence
-
Sklar CA, Kaplan SL & Grumbach MM. Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence. Journal of Clinical Endocrinology and Metabolism 1980 51 548-556.
-
(1980)
Journal of Clinical Endocrinology and Metabolism
, vol.51
, pp. 548-556
-
-
Sklar, C.A.1
Kaplan, S.L.2
Grumbach, M.M.3
-
22
-
-
1642342960
-
The early dehydroepiandrosterone sulfate rise of adrenarche and the delay of pubarche indicate primary ovarian failure in Turner syndrome
-
Martin DD, Schweizer R, Schwarze CP, Elmlinger MW, Ranke MB & Binder G. The early dehydroepiandrosterone sulfate rise of adrenarche and the delay of pubarche indicate primary ovarian failure in Turner syndrome. Journal of Clinical Endocrinology and Metabolism 2004 89 1164-1168.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, pp. 1164-1168
-
-
Martin, D.D.1
Schweizer, R.2
Schwarze, C.P.3
Elmlinger, M.W.4
Ranke, M.B.5
Binder, G.6
-
23
-
-
0014541729
-
Pseudoprecocious puberty in infants caused by a dermal ointment containing estrogens
-
Beas F, Vargas L, Spada RP & Merchak N. Pseudoprecocious puberty in infants caused by a dermal ointment containing estrogens. Journal of Pediatrics 1969 75 127-130.
-
(1969)
Journal of Pediatrics
, vol.75
, pp. 127-130
-
-
Beas, F.1
Vargas, L.2
Spada, R.P.3
Merchak, N.4
-
24
-
-
0002719881
-
The resistance syndromes: 5α reductase deficiency, testicular feminisation and related disorders
-
Eds CR Scriver, AL Baudet, WS Sly & D Valle, New York: McGraw Hill
-
Griffin JE & Wilson JD. The resistance syndromes: 5α reductase deficiency, testicular feminisation and related disorders. In The Metabolic Basis of Inherited Disease, pp 1919-1944. Eds CR Scriver, AL Baudet, WS Sly & D Valle, New York: McGraw Hill, 1989.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 1919-1944
-
-
Griffin, J.E.1
Wilson, J.D.2
-
25
-
-
0037622786
-
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: Five novel mutations in the androgen receptor gene
-
Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC & Arnhold IJ. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. Journal of Clinical Endocrinology and Metabolism 2003 88 3241-3250.
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, pp. 3241-3250
-
-
Melo, K.F.1
Mendonca, B.B.2
Billerbeck, A.E.3
Costa, E.M.4
Inácio, M.5
Silva, F.A.6
Leal, A.M.7
Latronico, A.C.8
Arnhold, I.J.9
-
26
-
-
17944370006
-
Genotype versus phenotype in families with androgen insensitivity syndrome
-
Boehmer ALM, Bruggenwirth H, Assendelft C, Otten BJ, Verleun-Moijiman MCT, Niermeijer MF, Brunner HG, Rouwe' CW, Waelkens JJ, Oostdijk W, Kleijer WJ, Kwast TH, Vroede MA & Drop SLS. Genotype versus phenotype in families with androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism 2001 86 4151-4160.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 4151-4160
-
-
Boehmer, A.L.M.1
Bruggenwirth, H.2
Assendelft, C.3
Otten, B.J.4
Verleun-Moijiman, M.C.T.5
Niermeijer, M.F.6
Brunner, H.G.7
Rouwe', C.W.8
Waelkens, J.J.9
Oostdijk, W.10
Kleijer, W.J.11
Kwast, T.H.12
Vroede, M.A.13
Drop, S.L.S.14
-
27
-
-
52449110003
-
Androgen insensitivity syndrome: Clinical features and molecular defects
-
Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E & Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones 2008 7 217-229.
-
(2008)
Hormones
, vol.7
, pp. 217-229
-
-
Galani, A.1
Kitsiou-Tzeli, S.2
Sofokleous, C.3
Kanavakis, E.4
Kalpini-Mavrou, A.5
-
28
-
-
0034040668
-
Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene
-
Matsuzaki S, Yanase T, Murakami T, Uehara S, Nawata H & Yajima A. Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene. Fertility and Sterility 2000 73 1183-1186.
-
(2000)
Fertility and Sterility
, vol.73
, pp. 1183-1186
-
-
Matsuzaki, S.1
Yanase, T.2
Murakami, T.3
Uehara, S.4
Nawata, H.5
Yajima, A.6
-
29
-
-
17144431449
-
17α-Hydroxylase/17,20-lyase deficiency due to novel compound heterozygote mutations: Treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister
-
Schwab KO, Moisan AM, Homoki J, Peter M & Simard J. 17α-Hydroxylase/17,20-lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. Journal of Pediatric Endocrinology and Metabolism 2005 18 403-411.
-
(2005)
Journal of Pediatric Endocrinology and Metabolism
, vol.18
, pp. 403-411
-
-
Schwab, K.O.1
Moisan, A.M.2
Homoki, J.3
Peter, M.4
Simard, J.5
-
30
-
-
40949144759
-
Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity
-
Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z & Wudy SA. Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity. European Journal of Endocrinology 2008 158 385-392.
-
(2008)
European Journal of Endocrinology
, vol.158
, pp. 385-392
-
-
Tiosano, D.1
Knopf, C.2
Koren, I.3
Levanon, N.4
Hartmann, M.F.5
Hochberg, Z.6
Wudy, S.A.7
-
31
-
-
0029848913
-
Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: With a review of Japanese patients with mutations of CYP17
-
Miura K, Yasuda K, Yanase T, Yamakita N, Sasano H, Nawata H, Inoue M, Fukaya T & Shizuta Y. Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. Journal of Clinical Endocrinology and Metabolism 1996 81 3797-3801.
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, pp. 3797-3801
-
-
Miura, K.1
Yasuda, K.2
Yanase, T.3
Yamakita, N.4
Sasano, H.5
Nawata, H.6
Inoue, M.7
Fukaya, T.8
Shizuta, Y.9
-
32
-
-
18844381595
-
Subtle 17α-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman
-
Taniyama M, Tanabe M, Saito H, Ban Y, Nawata H & Yanase T. Subtle 17α-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman. Journal of Clinical Endocrinology and Metabolism 2005 90 2508-2511.
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, pp. 2508-2511
-
-
Taniyama, M.1
Tanabe, M.2
Saito, H.3
Ban, Y.4
Nawata, H.5
Yanase, T.6
-
33
-
-
0038413727
-
A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency
-
Hahm JR, Kim DR, Jeong DK, Chung JH, Lee MS, Min YK, Kim KW & Lee MK. A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency. Metabolism 2003 52 488-492.
-
(2003)
Metabolism
, vol.52
, pp. 488-492
-
-
Hahm, J.R.1
Kim, D.R.2
Jeong, D.K.3
Chung, J.H.4
Lee, M.S.5
Min, Y.K.6
Kim, K.W.7
Lee, M.K.8
-
34
-
-
33749553506
-
Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency
-
Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC & New MI. Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency. Journal of Clinical Endocrinology and Metabolism 2006 91 4179-4182.
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 4179-4182
-
-
Ergun-Longmire, B.1
Auchus, R.2
Papari-Zareei, M.3
Tansil, S.4
Wilson, R.C.5
New, M.I.6
-
35
-
-
27744503078
-
Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling
-
Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo, L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E & Racz K. Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling. Journal of Steroid Biochemistry and Molecular Biology 2005 97 257-265.
-
(2005)
Journal of Steroid Biochemistry and Molecular Biology
, vol.97
, pp. 257-265
-
-
Patocs, A.1
Liko, I.2
Varga, I.3
Gergics, P.4
Boros, A.5
Futo, L.6
Kun, I.7
Bertalan, R.8
Toth, S.9
Pazmany, T.10
Toth, M.11
Szücs, N.12
Horanyi, J.13
Glaz, E.14
Racz, K.15
-
36
-
-
0034167938
-
Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17α-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia
-
Uehara S, Sato J, Nishiyama Y, Matsuzaki S, Funato T, Murotsuki J, Yaegashi N, Okamura K & Yajima A. Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17α-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia. Tohoku Journal of Experimental Medicine 2000 190 279-287.
-
(2000)
Tohoku Journal of Experimental Medicine
, vol.190
, pp. 279-287
-
-
Uehara, S.1
Sato, J.2
Nishiyama, Y.3
Matsuzaki, S.4
Funato, T.5
Murotsuki, J.6
Yaegashi, N.7
Okamura, K.8
Yajima, A.9
-
37
-
-
65549140543
-
Novel mutation in cytochrome P450c17 causes complete combined 17α-hydroxylase/17,20-lyase deficiency
-
Bhangoo A, Aisenberg J, Chartoffe A, Ten S, Wallerstein RJ, Wolf R & Auchus RJ. Novel mutation in cytochrome P450c17 causes complete combined 17α-hydroxylase/17,20-lyase deficiency. Journal of Pediatric Endocrinology and Metabolism 2008 20 21185-21190.
-
(2008)
Journal of Pediatric Endocrinology and Metabolism
, vol.20
, pp. 21185-21190
-
-
Bhangoo, A.1
Aisenberg, J.2
Chartoffe, A.3
Ten, S.4
Wallerstein, R.J.5
Wolf, R.6
Auchus, R.J.7
-
38
-
-
0029155404
-
Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene
-
Oshiro C, Takasu N, Wakugami T, Komiya I, Yamada T, Eguchi Y & Takei H. Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. Journal of Clinical Endocrinology and Metabolism 1995 80 2526-2529.
-
(1995)
Journal of Clinical Endocrinology and Metabolism
, vol.80
, pp. 2526-2529
-
-
Oshiro, C.1
Takasu, N.2
Wakugami, T.3
Komiya, I.4
Yamada, T.5
Eguchi, Y.6
Takei, H.7
|