کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2863961 1573175 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases
چکیده انگلیسی

IntroductionThe molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE.MethodsThe authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE.ResultsSeven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations.ConclusionsThe genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The American Journal of the Medical Sciences - Volume 343, Issue 3, March 2012, Pages 210–214
نویسندگان
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