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PARK6 is a common cause of familial parkinsonism

✍ Scribed by E.M. Valente; F. Brancati; V. Caputo; E.A. Graham; M.B. Davis; A. Ferraris; M.M.B. Breteler; T. Gasser; V. Bonifati; A.R. Bentivoglio; G. De Michele; A. Dürr; P. Cortelli; A. Filla; G. Meco; B.A. Oostra; A. Brice; A. Albanese; B. Dallapiccola; N.W. Wood


Publisher
Springer Milan
Year
2002
Tongue
English
Weight
46 KB
Volume
23
Category
Article
ISSN
1590-1874

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✍ Rauh, G. ;Keller, C. ;Schuster, H. ;Wolfram, G. ;Z�llner, N. 📂 Article 📅 1992 🏛 Springer-Verlag 🌐 English ⚖ 761 KB

Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the