Pages that link to "Q34566341"
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The following pages link to Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia (Q34566341):
Displaying 41 items.
- The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (Q24613957) (← links)
- Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q26751005) (← links)
- Mutations in steroid 21-hydroxylase (CYP21) (Q28247814) (← links)
- An overview of molecular diagnosis of steroid 21-hydroxylase deficiency (Q28366403) (← links)
- Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia (Q33431446) (← links)
- Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene (Q33678554) (← links)
- Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism (Q33907184) (← links)
- Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively (Q34193001) (← links)
- Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus (Q34300484) (← links)
- Evolutionary origin of mutations in the primate cytochrome P450c21 gene (Q35195603) (← links)
- Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency (Q35195889) (← links)
- Gene conversion in steroid 21-hydroxylase genes. (Q35198388) (← links)
- Defining DNA diagnostic tests appropriate or standard clinical care (Q35198518) (← links)
- Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q35605548) (← links)
- Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus (Q36814824) (← links)
- Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q36948280) (← links)
- Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (Q37003273) (← links)
- CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation (Q38856980) (← links)
- Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia. (Q41161240) (← links)
- Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. (Q41989442) (← links)
- Tenascin-X deficiency is associated with Ehlers-Danlos syndrome (Q43500561) (← links)
- The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences: comparison and identification of possible regulatory elements (Q44033465) (← links)
- HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region (Q44134118) (← links)
- Late-onset congenital adrenal hyperplasia in a group of hyperandrogenic women (Q44919572) (← links)
- Prenatal treatment of congenital adrenal hyperplasia: a promising experimental therapy of unproven safety (Q46184285) (← links)
- Complete inherited deficiency of the fourth complement component in a child with systemic lupus erythematosus and his disease-free brother in a north African family (Q46689431) (← links)
- CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region (Q57009922) (← links)
- Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q57632787) (← links)
- Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families (Q67525018) (← links)
- Congenital Adrenal Hyperplasias (Q67833865) (← links)
- Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands (Q67975585) (← links)
- CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families (Q68079312) (← links)
- TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency (Q68160074) (← links)
- Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia (Q68164312) (← links)
- Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families (Q68310061) (← links)
- Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase, complement C4, and HLA class II genes (Q68327988) (← links)
- Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency (Q71350039) (← links)
- Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency (Q72234633) (← links)
- [Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis?] (Q73200569) (← links)
- Relation between the anatomical genital phenotype and cystic fibrosis transmembrane conductance regulator gene mutations in the absence of the vas deferens (Q74092847) (← links)
- The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency (Q92106275) (← links)