A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

Journal of Human Genetics

Volumn 47, Issue 4, 2002, Pages 190-195

  Cebrián, Arancha ^a   Ruíz Llorente, Sergio ^a   Cascón, Alberto ^a   Osorio, Ana ^a   Martínez Delgado, Beatriz ^a   Benítez, Javier ^a   Robledo, Mercedes ^a  

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

CSGE; Easy; Efficient; Inexpensive method; MEN1; Multiplex PCR; Mutation screening

Indexed keywords

DNA; NUCLEOTIDE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GEL ELECTROPHORESIS; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTRON; MULTIPLE ENDOCRINE NEOPLASIA; POLYMERASE CHAIN REACTION;

EID: 0036246320     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200022     Document Type: Article

References (23)

1. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
2. Characterization of mutations in patients with multiple endocrine neoplasia type 1
3. Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1
4. Positional cloning of the gene for multiple endocrine neoplasia type 1
5. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung
6. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
7. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
8. Genotype/phenotype correlations of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas
9. Menin, the product of the MEN1 gene, is a nuclear protein
10. A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
11. Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region
12. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
13. Multiple endocrine neoplasia (MEN) syndromes
14. Comparison of conformational-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols
15. Molecular pathology of multiple endocrine neoplasia type I: Two novel germline mutations and updated classification of mutations affecting MEN1 gene
16. MEN1 gene mutations analysis in Italian patients with multiple endocrine neoplasia type 1
17. Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects
18. Clinical features of multiple endocrine neoplasia type 1 and type 2
19. Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families
20. Analysis of loss of heterozygosity on chromosome 11 and infrequent inactivation of the MEN1 gene in sporadic pituitary adenomas
21. Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11
22. Clinical studies of multiple endocrine neoplasia type 1 (MEN1)
23. Mutations of the MEN1 tumor suppressor gene in sporadic pituitary tumors