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D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome

✍ Scribed by Yukiko Nishio; Takeru Makiyama; Hideki Itoh; Tomoko Sakaguchi; Seiko Ohno; Yin-Zhi Gong; Satoshi Yamamoto; Tomoya Ozawa; Wei-Guang Ding; Futoshi Toyoda; Mihoko Kawamura; Masaharu Akao; Hiroshi Matsuura; Takeshi Kimura; Toru Kita; Minoru Horie


Book ID
119268489
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
924 KB
Volume
54
Category
Article
ISSN
1558-3597

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The E148Q mutation in the MEFV gene: Is
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Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serositis. To date more then 18 mutations responsible for the disease were identified in the MEFV gene, one such a mutation is E148Q in exon 2 of the gene. While screening FMF patients for muta