Mutation Analysis in Patients with Congenital Adrenal Hyperplasia in the Spanish Population: Identification of Putative Novel Steroid 21-Hydroxylase Deficiency Alleles Associated with the Classic Form of the Disease

Publisher： Karger

E-ISSN： 1423-0062|49|3|169-175

ISSN： 0001-5652

Source： Human Heredity, Vol.49, Iss.3, 1999-05, pp. : 169-175

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

High Variability of CYP21 Gene Rearrangements in Spanish Patients with Classic Form of Congenital Adrenal Hyperplasia

By  

Human Heredity, Vol. 48, Iss. 4, 1998-07 ,pp. : 216-225

Karger

Access to resources Recommend Favorite

Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

By  

Human Heredity, Vol. 49, Iss. 1, 1999-01 ,pp. : 9-14

Karger

Access to resources Recommend Favorite

Identification of Non-Amplifying CYP21 Genes When Using PCR-Based Diagnosis of 21-Hydroxylase Deficiency in Congenital Adrenal Hyperplasia (CAH) Affected Pedigrees

By Day Darren J.   Speiser Phyllis W.   Schulze Egbert   Bettendorf M.   Fitness Jodene   Barany Francis   White Perrin C.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 2039-2048

Oxford University Press

Access to resources Recommend Favorite

New Genetic Abnormalities in Non-21α-Hydroxylase-Deficiency Congenital Adrenal Hyperplasia

By  

Sexual Development, Vol. 7, Iss. 6, 2013-12 ,pp. : 289-294

Karger

Access to resources Recommend Favorite

Identification of a Novel Large CYP17A1 Deletion by MLPA Analysis in a Family with Classic 17α-Hydroxylase Deficiency

By  

Sexual Development, Vol. 9, Iss. 2, 2015-02 ,pp. : 91-97

Karger

Access to resources Recommend Favorite