Four novel point mutations in exons 12, 13, and 14 of the FLT3 gene

Novel point mutation in exon 12 of the g

Novel point mutation in exon 12 of the glucose-6- Phosphate Dehydrogenase Gene: G6PD Flores

✍ Maria-Odete Rodrigues; Júlia Dias Pereira; Gisela Gaspar; Gabriel Olim; Maria-do 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 1 views

## Abstract In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a “moderate rate of G6PD deficiency” (12.6% of the normal activity) according

Seven novel and four recurrent point mut

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

✍ Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dwornicza 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A.

Seven novel and four recurrent point mut

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

✍ Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dwornicza 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A.

Analysis of the exon 12 and 14 mutations

Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia

✍ Inami, M; Yamaguchi, H; Hasegawa, S; Mitamura, Y; Kosaka, F; Kobayashi, A; Kimur 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 62 KB

Five Novel and four recurrent point muta

Five Novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis

✍ Keiko Nagaizumi; Hiroshi Inaba; Kagehiro Amano; Midori Suzuki; Morio Arai; Katsu 📂 Article 📅 2003 🏛 Carden Jennings Publishing 🌐 English ⚖ 417 KB

Identification of seven novel cryptic ex

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

✍ Zhujun Zhang; Yasuaki Habara; Atsushi Nishiyama; Yoshinobu Oyazato; Mariko Yagi; 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 499 KB