A new deletion of the 5α‐reductase type 2 gene in a Turkish family with 5α‐reductase deficiency
@article{Boudon1995AND, title={A new deletion of the 5α‐reductase type 2 gene in a Turkish family with 5α‐reductase deficiency}, author={C. Boudon and J. Lobaccaro and S. Lumbroso and G{\"o}n{\"u}l {\"O}sgur and G. {\"O}cal and Charles Belon and C. Sultan}, journal={Clinical Endocrinology}, year={1995}, volume={43} }
The molecular basis for male pseudohermaphroditism produced by the 5α‐reductase deficiency is becomining Increasingly understood.
32 Citations
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiency
- Biology, Medicine
- Clinical endocrinology
- 2000
- 51
Molecular Characterization of 5α-Reductase Type 2 Deficiency and Fertility in a Swedish Family1
- Biology
- 1998
- 70
- PDF
New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency
- Biology
- 1999
- 20
A New Mutation of 5-Alpha-Reductase Type 2 (A62E) in a Large Egyptian Kindred
- Biology, Medicine
- Hormone Research in Paediatrics
- 2003
- 18
The Identification of 5α-Reductase-2 and 17β-Hydroxysteroid Dehydrogenase-3 Gene Defects in Male Pseudohermaphrodites from a Turkish Kindred1
- Biology
- 1998
- 66
- PDF
Reprint of “Steroid 5α-reductase 2 deficiency”
- Biology, Medicine
- The Journal of Steroid Biochemistry and Molecular Biology
- 2017
- 6
References
SHOWING 1-10 OF 16 REFERENCES
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
- Biology, Medicine
- The Journal of clinical investigation
- 1992
- 347
A cluster of male pseudohermaphrodites with 5α‐reductase deficiency in Papua New Guinea
- Biology
- 1991
- 118
Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase.
- Biology, Medicine
- The Journal of clinical investigation
- 1992
- 346
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism
- Biology, Medicine
- The Journal of Steroid Biochemistry and Molecular Biology
- 1993
- 28
INCOMPLETE ANDROGEN INSENSITIVITY SYNDROME: PARTIALLY MASCULINIZED GENITALIA IN TWO PATIENTS WITH ABSENCE OF ANDROGEN RECEPTOR IN CULTURED FIBROBLASTS
- Biology, Medicine
- Clinical endocrinology
- 1983
- 21