Novel mutations in the human CYP21 gene

Prenatal Diagnosis

Volumn 21, Issue 10, 2001, Pages 885-889

  Levo, Antti ^a   Partanen, Jukka ^a  

^a FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

CYP21 deficiency; De novo mutation; Genetic diagnosis

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; GENE LOCUS; GENE MUTATION; GENETIC RECOMBINATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; POINT MUTATION; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; FINLAND; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HLA ANTIGENS; HUMANS; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE;

EID: 0035160880     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.167     Document Type: Article

References (19)

1. A de novo pathological point mutation at the 21-hydroxylase locus: Implications for gene conversion in the human genome
2. Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in proband during subsequent prenatal diagnosis by HLA typing and DNA analysis
3. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
4. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well-defined population
5. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
6. Mutation-haplotype analysis of steroid 21-hydroxylase deficiency in Finland. Implications for population history of defective alleles
7. A novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia
8. Tracing past population migrations: Genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland
9. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
10. Genetic disorders of steroid hormone synthesis and metabolism
11. Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis
12. Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population
13. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
14. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
15. De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings
16. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism
17. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms
18. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
19. Mutations in steroid 21-hydroxylase (CYP21)