✦ LIBER ✦

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients

✍ Scribed by Savoia, Anna; Ianzano, Leonarda; Lunardi, Claudio; Sandre, Giorgio; Carotenuto, Mario; Musto, Pellegrino; Zelante, Leopoldo

Book ID: 118771709
Publisher: Springer
Year: 1996
Tongue: English
Weight: 489 KB
Volume: 97
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00218831

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the PIG-A gene causing part

Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria

✍ Monica Bessler; Philip J. Mason; Peter Hillmen; Lucio Luzzatto 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 372 KB

Childhood paroxysmal nocturnal haemoglob

Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands

✍ M. M. Van Den Heuvel-Eibrink; R. G. M. Bredius; M. L. Te Winkel; R. Tamminga; J. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

Analysis of Pig-a Gene mutations in paro

Analysis of Pig-a Gene mutations in paroxysmal nocturnal hemoglobinuria

✍ E Fermo; P Bianchi; C Boschetti; M Zappa; C Vercellati; A Zanella 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 23 KB

Studies of the Role of Red Cell Membrane

Studies of the Role of Red Cell Membrane Peroxidation in Paroxysmal Nocturnal Haemoglobinuria (PNH)

✍ N. V. Paniker; A. B. Arnold; R. C. Hartmann 📂 Article 📅 1974 🏛 John Wiley and Sons 🌐 English ⚖ 581 KB

Abnormalities of PIG-A transcripts in ne

Abnormalities of PIG-A transcripts in neutrophils from patients with paroxysmal nocturnal hemoglobinuria (PNH)

✍ T. Miyata; N. Yamada; Y. Iida; J. Nishimura; J. Takeda; T. Kitani; T. Kinoshita 📂 Article 📅 1993 🏛 Elsevier Science 🌐 English ⚖ 133 KB

Identification of three novel mutations

Identification of three novel mutations in the MYO7A gene

✍ José M. Cuevas; C. Espinós; J.M. Millán; F. Sánchez; M.J. Trujillo; C. Ayuso; M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB 👁 2 views

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.