Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect
- Author
- COSSE, Mireille1 ; DEMEER, Bénédicte1 ; HEGDE, Sridevi9 ; SPRINGELL, Kelly; THELMA, B. K4 ; WOODS, Geoffrey; KALSCHEUER, Vera5 ; MANDEL, Jean-Louis1 10 ; BLANCHET, Patricia2 ; ECHENNE, Bernard3 ; SINGH, Deepika4 ; HAGENS, Olivier5 ; ANTIN, Manuela1 ; FINCK, Sonja6 ; VALLEE, Louis7 ; DOLLFUS, Hélène8
[1] Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg et Faculté de Médecine, Strasbourg, France
[2] Service de génétique médicale, CHU de Montpellier, France
[3] Service de neuropédiatrie, CHU de Montpellier, France
[4] Department of Genetics, University of Delhi South Campus, New Delhi, India
[5] Max Planck Institute for Molecular Genetics, Berlin, Germany
[6] Service de Pédiatrie, Hôpital de Haguenau, France
[7] Service de neuropédiatrie, CHU de Lille, France
[8] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
[9] Manipal Hospital, Bangalore, India
[10] IGBMC (CNRS/INSERM/ULP) and Collège de France, Illkirch, France - Source
European journal of human genetics. 2006, Vol 14, Num 4, pp 418-425, 8 p ; ref : 30 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- PQBP1 X-linked MR mutations
- Keyword (fr)
- Arriération mentale Caractère lié au sexe Chromosome X Délétion Gène Génétique Homme Malade Maladie héréditaire Mutation Pathogène Pathogénie Microdélétion Déficience intellectuelle Trouble développement
- Keyword (en)
- Mental retardation Sex linked character X-Chromosome Deletion Gene Genetics Human Patient Genetic disease Mutation Pathogenic Pathogenesis Microdeletion Intellectual deficiency Developmental disorder
- Keyword (es)
- Retraso mental Carácter ligado al sexo Cromosoma X Deleción Gen Genética Hombre Enfermo Enfermedad hereditaria Mutación Patógeno Patogenia Microdeletion Deficiencia intelectual Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 17614354
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
10.1038/sj.ejhg.5201593 
https://dx.doi.org/10.1038/sj.ejhg.5201593
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