• Find an Expert
  • Search iconSearch
  • Menu
  • Help
  • Report an issue

Journal article

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

LS Weaving, SL Williamson, B Bennetts, M Davis, CJ Ellaway, H Leonard, MK Thong, M Delatycki, EM Thompson, N Laing, J Christodoulou

American Journal of Medical Genetics | WILEY-LISS | Published : 2003

DOI: 10.1002/ajmg.a.10053

University of Melbourne Researchers

Martin Delatycki's Profile Picture
Martin Delatycki Author Melbourne School of Population and Global Health

John Christodoulou's Profile Picture
John Christodoulou Author Paediatrics Royal Children's Hospital

Grants

Citation metrics

94Web of Science
91Dimensions

Keywords

Mutagenesis, Insertional
Polymorphism, Genetic
Australia
Dna Mutational Analysis
Repressor Proteins
Mutation
Linked Mental-Retardation
Genetics & Heredity
X-Inactivation
Cpg-Binding Protein-2
Chromosomal Proteins, Non-Histone
Gene
Dosage Compensation, Genetic
Chromosome-Inactivation
Histone Deacetylase
Patterns
Dna
Epigenetic
Science & Technology
Codon, Nonsense
Phenotype
Genotype
Preserved Speech Variant
Life Sciences & Biomedicine
Databases As Topic
Methyl-Cpg-Binding Protein 2
Rett Syndrome
Mecp2 Mutation
Girls
Humans
Sequence Deletion
Dna-Binding Proteins
Transcriptional Repression
Methylated Dna
Frameshift Mutation
Methyl Cpg-Binding Protein 2

UNIVERSITY SEARCH

›  

Current students

›  

Staff

›  

Alumni

  

Faculties & graduate schools

  

Library

  

Contact us

  

Maps

  

Support the campaign

  

Jobs

facebookIcontwitterIconlinkedinIcon


Phone: 13 MELB ( 13 6352)

International: +61 3 9035 5511

ABN: 84 002 705 224

CRICOS Provider Code:
00116K ( visa information)

Emergency information  |  Disclaimer and copyright  |  Accessibility  |  Privacy

STUDY AT MELBOURNE

›  Find a course

›  Admissions, fees & applications

›  International students

›  Campus tour

›  Connect with us

›  Accommodation

ABOUT US

›  Strategy and leadership

›  Tradition of excellence

›  International connections

›  Campuses and facilities

›  Structure and governance

›  Policy and publications

›  Careers at Melbourne

›  Supplying to the University

CONTACT & MAPS

›  Enquiries

›  Media

›  Find an expert

›  Campus maps

›  Traffic, parking & bicycles

›  Find a staff member

ALUMNI & FRIENDS

›  Benefits & services

›  Give

›  Volunteer

›  3010: alumni magazine

RESEARCH

›  Research institute

›  Find an expert or supervisor

›  Graduate researchers

›  Pursuit: our research showcase

ENGAGEMENT

›  Events

›  Sports facilities

›  Shop

We acknowledge and pay respect to the Traditional Owners of the lands upon which our campuses are situated.