𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The IVS1- 2A>G mutation in theSRD5A2gene predominates in Cypriot patients with 5α reductase deficiency

✍ Scribed by Skordis, N.; Neocleous, V.; Kyriakou, A.; Efstathiou, E.; Sertedaki, A.; Philibert, P.; Phylactou, L. A.; Lumbroso, S.; Sultan, C.


Book ID
125337715
Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
162 KB
Volume
33
Category
Article
ISSN
0391-4097

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


New frameshift mutation in the 5?-reduct
✍ Ferraz, L�cio F�bio Caldas; Mathias Baptista, Maria Teresa; Maciel-Guerra, Andr� 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Male pseudohermaphroditism caused by steroid 5␣-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5␣-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male g

Homozygous mutation (A228T) in the 5?-re
✍ Nordenskj�ld, Agneta; Magnus, �ystein; Aagen�s, �ystein; Knudtzon, J�rgen 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 1 views

The molecular basis of a patient with 5␣reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 1