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Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

✍ Scribed by Martin Gencik; Alexandra Gencik; Wilhelm Mortier; Jörg T. Epplen


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
10 KB
Volume
15
Category
Article
ISSN
1059-7794

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Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.