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The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever

✍ Scribed by Nuran Turkcapar; Timur Tuncalı; Sim Kutlay; Basak Yalcin Burhan; Gulay Kinikli; Sehsuvar Erturk; Murat Duman

Publisher
Springer
Year
2006
Tongue
English
Weight
330 KB
Volume
27
Category
Article
ISSN
0172-8172

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✍ Gudnason, V. ;Mak, Y-T. ;Betteridge, J. ;McCarthy, S.N. ;Humphries, S. 📂 Article 📅 1993 🏛 Springer-Verlag 🌐 English ⚖ 962 KB

The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations