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Anaesthesia for epidermolysis bullosa dystrophia : A report of multiple anaesthetics in one patient

✍ Scribed by D.A. Young; P.B. Hardwick

Book ID
108609545
Publisher
John Wiley and Sons
Year
1968
Tongue
English
Weight
424 KB
Volume
23
Category
Article
ISSN
0003-2409

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A recurrent laminin 5 mutation in Britis
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
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The three genes (LAMA3, LAB3 and LAMC2) that encode the anchoring filament protein, laminin 5, may all harbour pathogenetic mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa (JEB). Recently, one particular mutation, R635X in the LAMB3 gene, has been foun