✦ LIBER ✦

A new mutation in the platelet GPIbα gene interfering with HPA-2 genotyping approaches: A case report

✍ Scribed by Nogués, Núria; Muñiz-Díaz, Eduardo; Bertrand, Gerald

Book ID: 125444495
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 241 KB
Volume: 53
Category: Article
ISSN: 0372-1248
DOI: 10.1111/trf.12204

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe congenital muscular dystrophy in

Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene

✍ R. M. Coral-Vazquez; H. Rosas-Vargas; P. Meza-Espinosa; I. Mendoza; J. C. Huicoc 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 658 KB

A report on 10 new patients with heteroz

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

✍ Marja Majava; Kristien P. Hoornaert; Deborah Bartholdi; Mieke C. Bouma; Katelijn 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 2 views

Identification of a new mutation in the

Identification of a new mutation in the hepatocyte nuclear factor-1 α gene in a polish family with early onset type 2 diabetes mellitus

✍ Maciej T. Malecki; Tomasz Klupa; Jakub Frey; Katarzyna Cyganek; Danuta Galicka-S 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 109 KB

P27.6 Pelizaeus Merzbacher-like disease

P27.6 Pelizaeus Merzbacher-like disease (PMLD): report of a patient with a new mutation in the GJA12/GJC2 gene

✍ J. Piccirilli; N. Deconinck; A. Monier; J. Molano; P. Martinez-Montero; I. Fasci 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 47 KB

117. Clinical, neurophysiological and ge

117. Clinical, neurophysiological and genetic observations in kufor-rakeb syndrome: report of a new kindred with compound heterozygous mutations in the ATP13A2 Gene

✍ Victor S.C. Fung; Prachi Mehta; Neil Manwaring; Carolyn M. Sue; Christian Kubisc 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 40 KB

Val2Ala mutation in the Atp6v0a4 gene ca

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

✍ Kose, Engin; Sirin Kose, Seda; Alparslan, Caner; Kasap Demir, Belde; Berdeli, Af 📂 Article 📅 2014 🏛 Informa plc 🌐 English ⚖ 283 KB