@article{1a41eb2e0c094d0ca3f23f6782748504,
title = "First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy",
abstract = "To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.",
keywords = "Adrenal Hyperplasia, Congenital, Adult, Female, Genotype, Humans, Isoleucine, Italy, Male, Polymorphism, Genetic, Siblings, Steroid 21-Hydroxylase, Valine, Adrenal Hyperplasia, Congenital, Adult, Female, Genotype, Humans, Isoleucine, Italy, Male, Polymorphism, Genetic, Siblings, Steroid 21-Hydroxylase, Valine",
author = "Paola Concolino and Corsello, {Salvatore Maria} and Cinzia Carrozza and Angelo Minucci and Concetta Santonocito and Rm Lovicu and Sa Santini and F Ameglio and Cecilia Zuppi and Capoluongo, {Ettore Domenico}",
year = "2007",
doi = "10.1016/j.clinbiochem.2007.09.002",
language = "English",
volume = "40",
pages = "1435--1436",
journal = "Clinical Biochemistry",
issn = "0009-9120",
publisher = "Elsevier Science Limited: Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL:
[email protected],
[email protected], INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010",
}