Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2004.01660.x/fullpdf
Reference13 articles.
1. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
2. Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency
3. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele
4. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)
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