✦ LIBER ✦

The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia

✍ Scribed by L. MONALDINI; R. ASSELTA; M. MALCOVATI; M. L. TENCHINI; S. DUGA

Book ID: 109149233
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 194 KB
Volume: 3
Category: Article
ISSN: 1538-7933
DOI: 10.1111/j.1538-7836.2005.01613.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of three novel mutations

Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis

✍ Klaus Grade; Ingrid Grunewald; Ina Graupner; Frauke Behrens; Charles Coutelle 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 873 KB

Identification of three novel mutations

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

✍ Ingrid Zwaenepoel; Elisabeth Verpy; Stéphane Blanchard; Moritz Meins; Eckart Apf 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 2 views

Comparison of complementary and genomic

Comparison of complementary and genomic DNA sequencing for the detection of mutations in theHMBSgene in British patients with acute intermittent porphyria: identification of 25 novel mutations

✍ Sharon D. Whatley; Jackie R. Woolf; G. H. Elder 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 53 KB

Optimization of a simple and rapid singl

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

✍ Yolanda Espinosa-Parrilla; Marta Morell; Montserrat Borrell; Joan Carles Souto; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 448 KB 👁 2 views

Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. The structure and high allelic heterogeneity of the PS gene (PROS1), together with the presence of a 97% homologous pseudogene, complicates PROS1 analysis. We have optimized a simple, fast, and non-isotopic Single-Stra

Screening of SLC25A13 mutations in early

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

✍ Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; M 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 539 KB

We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon