Art

J-GLOBAL ID：200902181947286982   Reference number：99A0266565

Novel mutations, including the second most common in Japan, in the β-hexosaminidase a subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

日本で2番目に多いものを含むβ-ヘキソサミニダーゼのαサブユニット遺伝子内の新規突然変異と日本人患者におけるTay-Sachs病の簡単なスクリーニング

Author (4)： TANAKA A (Osaka CIty Univ. Medical School, Osaka, JPN) ,  FUJIMARU M (Osaka CIty Univ. Medical School, Osaka, JPN) ,  ISSHIKI G (Osaka CIty Univ. Medical School, Osaka, JPN) ,  CHOEH K (Eulji Medical Coll. Hospital, Taejon, KOR)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 44  Issue： 2  Page： 91-95  Publication year： 1999 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *hexosaminidase ,...
Semi thesaurus term： FokI制限酵素 ,...

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JST classification (2)： Genetic variation  (EC01030Y) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (15)：

• AKLI, S. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Hum Mol Genet. 1993, 2, 61-67
• ARPAIA, E. Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature. 1988, 333, 85-86
• FERNANDES, M. A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Hom Mol Genet. 1992, 1, 759-761
• KAJIHARA, S. Exon redefication by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan. Am J Hum Genet. 1995, 57, 549-555
• MYEROWITZ, R. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease : Evidence against a single defect within this ethnic group. Proc Natl Acad Sci USA. 1988, 85, 3955-3959

Terms in the title (8)： 日本 ,  β-ヘキソサミニダーゼ ,  αサブユニット ,  突然変異 ,  日本人 ,  患者 ,  Tay-Sachs病 ,  スクリーニング