Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1428-1436

  Buyse, Inge M ^a   Fang, Ping ^a   Hoon, Katherine T ^a   Amir, Ruthie E ^a   Zoghbi, Huda Y ^a   Roa, Benjamin B ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME XP; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME; SEQUENCE ANALYSIS;

EID: 0033646567     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316913     Document Type: Article

References (22)

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3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
4. MECP2 mutations account for most cases of typical forms of Rett syndrome
5. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
6. Slowly but surely towards better scanning for mutations
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8. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
9. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
10. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
11. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
12. Denaturing high-performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
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14. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
15. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
16. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
17. MECP2 mutation in male patients with non-specific X-linked mental retardation
18. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
19. Uber ein eigenartiges himatrophisches syndrom bei hyperamonaemie im kindesalter
20. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
21. Rett syndrome and beyond: Recurrent spontaneous ant familial MECP2 mutations at CpG hotspots
22. Mutation screening in Rett syndrome patients