Six Missense Mutations of the Epithelial Sodium Channel .BETA. and .GAMMA. Subunits in Japanese Hypertensives
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Accession number;04A0428316
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| Title;Six Missense Mutations of the Epithelial Sodium Channel .BETA. and .GAMMA. Subunits in Japanese Hypertensives |
| Author;
KAMIDE K
(National Cardiovascular Center, Suita, Jpn)
TANAKA C
(National Cardiovascular Center, Suita, Jpn)
TAKIUCHI S
(National Cardiovascular Center, Suita, Jpn)
MIWA Y
(National Cardiovascular Center, Suita, Jpn)
YOSHII M
(National Cardiovascular Center, Suita, Jpn)
HORIO T
(National Cardiovascular Center, Suita, Jpn)
KAWANO Y
(National Cardiovascular Center, Suita, Jpn)
MIYATA T
(National Cardiovascular Center, Suita, Jpn)
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Journal Title;Hypertens Res
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Journal Code:Y0303A
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ISSN:0916-9636
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VOL.27;NO.5;PAGE.333-338(2004)
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| Figure&Table&Reference;TBL.4, REF.25 |
| Pub. Country;Japan |
| Language;English |
| Abstract;For Japanese hypertension patients, 381bp coding region of exon of 13 of amiloride sensitivity epithelium sodium channel .BETA. subunit (SCNN1B) gene and exon of 12 of .GAMMA. subunit (SCNN1G) gene was amplified, and the sequencing was decided in 948 and 953 cases, respectively. The missense mutation P592S of SCNN1B was recognized in 3 cases, T594M in 2 cases, E632K in 1 case in the heterozygote and synonymic mutation Ile515 was recognized in 1 case, Ser520 in 19 cases, Ser533 in 1 case and Thr594 in 11cases. The missense mutation A578V of SCNN1G was recognized in 1 case, P603S in 1 case, L609F in 1 case in the heterozygote and synonymic mutation Ile550 was recognized in 1 case, Leu649 in 93 cases. 1 case of P592S mutation of SCNN1B gene showed the rise in plasma renin activity (PRA), the lowering in blood plasma aldosterone concentration (PAC), and 1 case of T594M mutation showed the hypertension of the refractory, and 1 case of E632K mutation was the renovascular hypertension, which showed the rise in PRA and PAC. |
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