✦ LIBER ✦

A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene

✍ Scribed by Mutsuko Nakahara; Hiroko Iida; Michiyo Urata; Masako Fujise; Machiko Wakiyama; Sachiko Kinoshita; Hiroko Tsuda; Takashi Okamura; Kenshi Yao; Tsuneyoshi Yao; Naotaka Hamasaki

Book ID: 117256987
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 160 KB
Volume: 101
Category: Article
ISSN: 0049-3848
DOI: 10.1016/s0049-3848(01)00210-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Acceptor splice site mutation in the inv

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

✍ José Manuel Soria; Jordi Fontcuberta; Miguel Chillón; Montserrat Borrell; Xavier 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 344 KB

Failure in the Detection of Aberrant mRN

Failure in the Detection of Aberrant mRNA from the Heterozygotic Splice Site Mutant Allele for Protein S in a Patient with Protein S Deficiency

✍ Hiroko Iida; Mutsuko Nakahara; Kimihiro Komori; Masako Fujise; Machiko Wakiyama; 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 424 KB

Protein S gene analysis reveals the pres

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

✍ Yolanda Espinosa-Parrilla; Marta Morell; Joan Carles Souto; Isabel Tirado; Jordi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB 👁 2 views

DNA sequence analysis of the protein S gene (PROS1) in 22 Spanish probands with type I or III PS deficiency, has allowed the identification of 10 different mutations and 2 new sequence variants in 15 probands. Nine of the mutations, 8 of which are novel, cosegregate with type I or quantitative PS de

Severe type I protein C deficiency with

Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene

✍ K. K. ABU-AMERO; T. M. OWAIDAH; M. AL-MAHED 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

A novel and de novo splice-donor site mu

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency

✍ N Katsumata; S Matsuo; N Sato; T Tanaka 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 652 KB

Characterization of a large chromosomal

Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR

✍ Zandra R. Holmes; Rogier M. Bertina; Pieter H. Reitsma 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 781 KB