Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

Summary Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive mechanobullous disorder that results from loss‐of‐function mutations in the genes encoding the basement membrane component, laminin 5. Typically, there are frameshift, splice site or nonsense mutations on both alleles o...

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Veröffentlicht in:	Clinical and experimental dermatology 2005-01, Vol.30 (1), p.71-74
Hauptverfasser:	Fassihi, H., Wessagowit, V., Ashton, G. H. S., Moss, C., Ward, R., Denyer, J., Mellerio, J. E., McGrath, J. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Bullous diseases of the skin Chromosome Mapping Chromosomes, Human, Pair 1 - genetics Dermatology Epidermolysis Bullosa, Junctional - genetics Female Genetic Counseling Heterozygote Homozygote Humans Infant Medical sciences Uniparental Disomy - genetics
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