Article

Molecular genetics of congenital adrenal hyperplasia (21‐hydroxylase deficiency): implications for diagnosis, prognosis and treatment

1998-02-01

Abstract excerpt

The molecular genetics of congenital adrenal hyperplasia due to 21‐hydroxylase deficiency are reviewed. In Sweden, mutation detection based on allele‐specific PCR has been used for genetic diagnosis of this disease since 1993. Around 400 affected 21‐hydroxylase genes have been analysed so far. An update of the spectrum of mutations among the Swedish patients shows that nine common pseudogene‐derived mutations are...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 60cdd2ae-da51-5d4b-b751-b233720b19b5
DOI: 10.1111/j.1651-2227.1998.tb00968.x

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular genetics of congenital adrenal hyperplasia (21‐hydroxylase deficiency): implications for diagnosis, prognosis and treatmentDOI 10.1111/j.1651-2227.1998.tb00968.xRead

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.Semantic proximity Read

An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.Semantic proximity Read

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.Semantic proximity Read

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Semantic proximity Read

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical ImplicationsSemantic proximity Read

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.Semantic proximity Read

Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.Semantic proximity Read

Impact of molecular genetics on congenital adrenal hyperplasia management.Semantic proximity Read

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.Semantic proximity Read

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read