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Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension

✍ Scribed by Tomohiro Nakayama; Masayoshi Soma; Yoshiyasu Watanabe; Buaijiaer Hasimu; Mikano Sato; Noriko Aoi; Kotoko Kosuge; Katsuo Kanmatsuse; Shinichiro Kokubun; Jason D Marrow; John A Oates


Book ID
117052677
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
167 KB
Volume
297
Category
Article
ISSN
0006-291X

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Mutational analysis of the cystathionine
✍ Ross B. Gordon; Anthony J. Cox; Paul A. Dawson; Bryan T. Emmerson; Jan P. Kraus; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 132 KB πŸ‘ 1 views

RT-PCR and direct sequence analyses were used to define mutations in the cystathionine b -synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternall