Patients with primary cataract as a genetic pool of DMPK protomutation
Open Access
- 5 December 2006
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Human Genetics
- Vol. 52 (2), 123-128
- https://doi.org/10.1007/s10038-006-0091-4
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation EmbryosAmerican Journal of Human Genetics, 2004
- Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human CellsAmerican Journal of Human Genetics, 2003
- Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1Annals of Neurology, 2002
- Characterization of the full fragile X syndrome mutation in fetal gametesNature Genetics, 1997
- Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell linesHuman Genetics, 1996
- Frequency of myotonic dystrophy gene carriers in cataract patients.Journal of Medical Genetics, 1996
- Detection of a premutation in Japanese myotonic dystrophyHuman Molecular Genetics, 1994
- Characterization and Polymerase Chain Reaction (PCR) Detection of an Alu Deletion Polymorphism in Total Linkage Disequilibrium with Myotonic DystrophyGenomics, 1993
- Expansion of unstable DNA region in Japanese myotonic dystrophy patientsThe Lancet, 1992
- Population frequencies of inherited neuromuscular diseases—A world surveyNeuromuscular Disorders, 1991