PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1
- 17 January 2006
- journal article
- research article
- Published by Springer Nature in neurogenetics
- Vol. 7 (1) , 31-37
- https://doi.org/10.1007/s10048-005-0021-1
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating LeukodystrophiesAnnals of Human Genetics, 2005
- Frequency of large CFTR gene rearrangements in Italian CF patientsEuropean Journal of Human Genetics, 2005
- Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like DiseaseAmerican Journal of Human Genetics, 2004
- Mutation analysis of the M6b gene in patients with Pelizaeus–Merzbacher‐like syndromeAmerican Journal of Medical Genetics Part A, 2004
- Genomic imbalances in mental retardationJournal of Medical Genetics, 2004
- Diagnosis of gene dosage alterations at the PMP22 gene using MAPHJournal of Medical Genetics, 2003
- Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and FemalesAmerican Journal of Human Genetics, 2002
- Multiple Splice Isoforms of Proteolipid M6B in Neurons and OligodendrocytesMolecular and Cellular Neuroscience, 2001
- Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutationsEuropean Journal of Human Genetics, 2000
- Chromosomal Mapping of the Human M6 GenesGenomics, 1996