Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa
- 1 September 1997
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 61 (3) , 611-619
- https://doi.org/10.1086/515524
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis BullosaHuman Molecular Genetics, 1996
- High frequency of EBV association with non‐random abnormalities of the chromosome region 1q21‐25 in aids‐related Burkitt's lymphoma‐derived cell linesInternational Journal of Cancer, 1995
- Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis BullosaJournal of Investigative Dermatology, 1995
- Uniparental disomy and genomic imprinting as causes of human genetic diseaseEnvironmental and Molecular Mutagenesis, 1995
- Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)Human Mutation, 1995
- A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosaHuman Molecular Genetics, 1994
- The 1993–94 Généthon human genetic linkage mapNature Genetics, 1994
- The Genes for Nicein/Kalinin 125- and 100-kDa Subunits, Candidates for Junctional Epidermolysis Bullosa, Map to Chromosomes 1q32 and 1q25-q31Genomics, 1994
- Uniparental disomy revisited: The first twelve yearsAmerican Journal of Medical Genetics, 1993
- Partial Trisomy lq, an Uncommon Chromosomal Aberration in ErythroleukemiaLeukemia & Lymphoma, 1993