Art

J-GLOBAL ID：200902139806522988   Reference number：01A0973718

Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

同一家族のメンバーにて同定された異型接合性突然変異1種類を含む日本人常染色体優性多発性嚢胞腎疾患患者間のPKD1遺伝子の突然変異

Author (5)： MIZOGUCHI M (Kyorin Univ., Tokyo, JPN) ,  TAMURA T (Kyorin Univ., Tokyo, JPN) ,  YAMAKI A (Kyorin Univ., Tokyo, JPN) ,  HIGASHIHARA E (Kyorin Univ., Tokyo, JPN) ,  SHIMIZU Y (Kyorin Univ., Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 46  Issue： 9  Page： 511-517  Publication year： 2001 
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： *cystic kidney ,...
Semi thesaurus term： DHPLC ,...

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JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Molecular genetics in general  (EC02010J) ,  Kidney  (EJ09030X)

Reference (19)：

• BOGDANOVA, N. Screening the 3'region of polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations. Hum Mutat. 2000, 16, 166-174
• COTO, E. DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2 : evaluation of clinical heterogeneity between both forms of the disease. J Med Genet. 1995, 32, 442-445
• HARRIS, PC. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet. 1991, 338, 1484-1487
• HAYASHI, T. Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics. 1997, 44, 131-136
• KOPTIDES, M. Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. Hum Genet. 1998, 103, 709-717

Terms in the title (9)： 家族 ,  メンバー ,  同定 ,  異型接合性 ,  突然変異 ,  日本人 ,  常染色体優性多発性嚢胞腎 ,  疾患患者 ,  PKD1遺伝子