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A new and highly prevalent keratin mutation in patients with liver disease

✍ Scribed by Nam-On Ku; Jama M. Darling; Sheri M. Krams; Carlos O. Esquivel; Emmet B. Keeffe; Teresa L. Wright; M.B. Omary

Book ID
119427233
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
150 KB
Volume
124
Category
Article
ISSN
0016-5085

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Mutation 1091delC is highly prevalent in
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
✍ Magda Montfort; LluΓ―sa Vilageliu; NatΓ lia Garcia-Giralt; Silvina Guidi; Maria Jo πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 247 KB πŸ‘ 1 views

The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles hav