McLeod neuroacanthocytosis: Genotype and phenotype
- Author
- DANEK, Adrian1 ; RUBIO, Justin P2 ; CORBETT, Alastair J8 ; HAMDALLA, Hisham H. M9 ; MARSHALL, Andrew G10 ; SUTTON, Ian11 ; DOTTI, Maria Teresa12 ; MALANDRINI, Alessandro12 ; WALKER, Ruth H13 14 ; DANIELS, Geoff15 ; MONACO, Anthony P2 ; RAMPOLDI, Luca2 ; HO, Mengfatt2 ; DOBSON-STONE, Carol2 ; TISON, Francois3 ; SYMMANS, William A4 ; OECHSNER, Matthias5 ; KALCKREUTH, Wolfgang6 ; WATT, Julie M7
[1] Neurologische Klinik, Ludwig-Maximilians-Universität, München, Germany
[2] The Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
[3] Service de Neurologie, Centre Hospitalier Universitaire, Bordeaux, France
[4] Medlab, Hamilton, New Zealand
[5] Neurologische Universitätsklinik, Hamburg, Germany
[6] Zentrum für Psychiatrie, Emmendingen, Germany
[7] Australian Red Cross Blood Service-NSW, Sydney, Australia
[8] Department of Neurology, Repatriation General Hospital, Concord, NSW, Australia
[9] General Infirmary, Leeds, United Kingdom
[10] Wythenshawe University Hospital, Manchester, United Kingdom
[11] Department of Neurosciences, Queen Elizabeth Medical Centre, Birmingham, United Kingdom
[12] Istituto di Scienze Neurologiche, University degli Studi di Siena, Siena, Italy
[13] Department of Neurology, VA Medical Center, Bronx, NY, United States
[14] Mount Sinai School of Medicine, New York, NY, United States
[15] Bristol Institute for Transfusion Sciences, Bristol, United Kingdom - Source
Annals of neurology. 2001, Vol 50, Num 6, pp 755-764 ; ref : 67 ref
- Publisher
- Willey-Liss, Hoboken
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acanthocytose Chromosome X Diagnostic différentiel Déterminisme génétique Encéphale Génotype Homme Mutation Mâle Phénotype Gène XK Mc Leod syndrome Anomalie membrane hématie Anémie hémolytique Encéphale pathologie Hémopathie Maladie héréditaire Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Acanthocytosis X-Chromosome Differential diagnostic Genetic determinism Brain (vertebrata) Genotype Human Mutation Male Phenotype Erythrocytic membrane disease Hemolytic anemia Cerebral disorder Hemopathy Genetic disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Acantocitosis Cromosoma X Diagnóstico diferencial Determinismo genético Encéfalo Genotipo Hombre Mutación Macho Fenotipo Anomalía membrana hematía Anemia hemolítica Encéfalo patología Hemopatía Enfermedad hereditaria Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19A Diseases of red blood cells / 002B19A01 Anemias. Hemoglobinopathies
- Discipline
- Blood diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13427795
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ana.10035 
https://dx.doi.org/10.1002/ana.10035
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