Detection of imprinting mutations in Angelman syndrome using a probe for exon α ofSNRPN
- 17 May 1996
- journal article
- letter
- Published by Wiley in American Journal of Medical Genetics
- Vol. 63 (2) , 414-415
- https://doi.org/10.1002/ajmg.1320630206
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Angelman syndrome in an inbred familyHuman Genetics, 1996
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)Human Molecular Genetics, 1994
- Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndromeNature Genetics, 1994
- Functional imprinting and epigenetic modification of the human SNRPN geneHuman Molecular Genetics, 1993
- Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patientsHuman Molecular Genetics, 1993
- Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individualsAmerican Journal of Medical Genetics, 1993
- Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome regionNature Genetics, 1992
- Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical regionNature Genetics, 1992
- Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13Human Genetics, 1992