Title of article
A Splicing Mutation in the Hydroxymethylbilane Synthase Gene in a Japanese Family with Acute Intermittent Porphyria
Author/Authors
MAEDA، NAOTA نويسنده , , HORIE، YUTAKA نويسنده , , SASAKI، YUICHIRO نويسنده , , UETA، ETSUKO نويسنده , , ADACHI، KAORI نويسنده , , NANBA، EIJI نويسنده , , KAWASAKI، HIRONAKA نويسنده , , KUDO، YOSHIRO نويسنده , , KONDO، MASAO نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 1999
Pages
-410
From page
411
To page
0
Abstract
Tirnc evolution of spherical diffusion layer over dot electrodes was observed by Mach-Zehnder laser interferometer. The current response of those interdigitatcd dot electrodes was varied by the geometry of the electrode. The interferograms explained this in terms of the variation of the convective ion flux under the gravitational field.
Keywords
acute intermittent porphyria , AIP , gene , analysis , hydroxymethylbilane synthase , singlestrand conformation polymorphism , SSCP , HMBS , splicing mutation
Journal title
Clinical Biochemistry
Serial Year
1999
Journal title
Clinical Biochemistry
Record number
29003
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