Art
J-GLOBAL ID：200902004055551348   Reference number：90A0562228

Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.

後期発症オルニチントランスカルバミラーゼ欠損での突然変異の検出と見込みのある診断のための変性勾配ゲル電気泳動の使用
Author (4)：
FINKELSTEIN J E

About FINKELSTEIN J E

(Johns Hopkins Univ. School of Medicine, Maryland)

About Johns Hopkins Univ. School of Medicine, Maryland

, 
FRANCOMANO C A

About FRANCOMANO C A

(Johns Hopkins Univ. School of Medicine, Maryland)

About Johns Hopkins Univ. School of Medicine, Maryland

, 
BRUSILOW S W

About BRUSILOW S W

(Johns Hopkins Univ. School of Medicine, Maryland)

About Johns Hopkins Univ. School of Medicine, Maryland

, 
TRAYSTMAN M D

About TRAYSTMAN M D

(Univ. Nebraska Medical Center, Nebraska)

About Univ. Nebraska Medical Center, Nebraska


Material：
Genomics

About Genomics


Volume： 7  Issue： 2  Page： 167-172  Publication year： Jun. 1990 
JST Material Number： T0422A  ISSN： 0888-7543  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)
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human(primates)

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,...
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JST classification (1)：
JST classification
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Genetic variation 
(EC01030Y)

About Genetic variation

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
後期発症

About 後期発症

, 
オルニチントランスカルバミラーゼ欠損

About オルニチントランスカルバミラーゼ欠損

, 
突然変異

About 突然変異

, 
診断

About 診断

, 
変性勾配ゲル電気泳動

About 変性勾配ゲル電気泳動


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