Slight instability of a FMR-1 allele over three generations in a family from the general population.
par Abramowicz, Marc 
;Parma, Jasmine ;Cochaux, Pascale
Référence American journal of medical genetics, 64, 2, page (268-269)
Publication Publié, 1996-08
;Parma, Jasmine ;Cochaux, Pascale Référence American journal of medical genetics, 64, 2, page (268-269)
Publication Publié, 1996-08
Article révisé par les pairs
| Titre: |
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| Auteur: | Abramowicz, Marc; Parma, Jasmine; Cochaux, Pascale |
| Informations sur la publication: | American journal of medical genetics, 64, 2, page (268-269) |
| Statut de publication: | Publié, 1996-08 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Mots-clés: | FMR-1 |
| fragile X | |
| premutation | |
| triplet repeat | |
| unstable DNA | |
| MeSH keywords: | Alleles |
| Amniocentesis | |
| Female | |
| Fragile X Mental Retardation Protein | |
| Fragile X Syndrome -- genetics | |
| Fragile X Syndrome -- prevention & control | |
| Genomic Imprinting | |
| Humans | |
| Male | |
| Mass Screening | |
| Nerve Tissue Proteins -- genetics | |
| Pedigree | |
| Polymerase Chain Reaction | |
| Pregnancy | |
| RNA-Binding Proteins | |
| Trinucleotide Repeats | |
| Note générale: | Case Reports |
| Journal Article | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0148-7299 |
| info:doi/10.1002/(SICI)1096-8628(19960809)64:2<268::AID-AJMG6>3.0.CO;2-Q | |
| info:pii/10.1002/(SICI)1096-8628(19960809)64:2<268::AID-AJMG6>3.0.CO;2-Q | |
| info:scp/0030015138 | |
| info:pmid/8844062 |
