Pascal and Francis Bibliographic Databases

Help

Export

Selection :

Permanent link
http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20317498

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy

Author
TABOLACCI, Elisabetta1 ; GRAZIA POMPONI, Maria1 ; PIETROBONO, Roberta1 ; CHIURAZZI, Pietro1 ; NERI, Giovanni1
[1] Facolta di Medicina e Chirurgia, Institute of Medical Genetics, Catholic University, Rome, Italy
Source

European journal of human genetics. 2008, Vol 16, Num 2, pp 209-214, 6 p ; ref : 36 ref

ISSN
1018-4813
Scientific domain
Genetics
Publisher
Nature Publishing, Avenel, NJ
Publication country
United States
Document type
Article
Language
English
Author keyword
MR1 gene intragenic deletion triplet repeat contraction
Keyword (fr)
Allèle Contraction Délétion Enfant Etude cas Fragilité chromosomique Gène Génétique Mâle Mère Normal Syndrome du chromosome X fragile Séquence répétée Taille Triplet Aberration chromosomique Homme
Keyword (en)
Allele Contraction Deletion Child Case study Chromosome fragility Gene Genetics Male Mother Normal Fragile X syndrome Repeated sequence Size Triplet Chromosomal aberration Human
Keyword (es)
Alelo Contracción Deleción Niño Estudio caso Fragilidad cromosómica Gen Genética Macho Madre Normal X frágil síndrome Secuencia repetida Talla Triplete Aberración cromosómica Hombre
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

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 / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)

Discipline
Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20317498

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

Access to the document

Searching the Web