✦ LIBER ✦

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations inCYBBandNCF2Genes

✍ Scribed by Cécile Martel, Michelle Mollin, Sylvain Beaumel…

Book ID: 120691545
Publisher: Springer
Year: 2012
Tongue: English
Weight: 604 KB
Volume: 32
Category: Article
ISSN: 0271-9142
DOI: 10.1007/s10875-012-9698-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to: Clinical, Functional and Gen

Erratum to: Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease—Identification of Eight Novel Mutations inCYBBandNCF2Genes

✍ Cécile Martel, Michelle Mollin, Sylvain Beaumel… 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 60 KB

Genetic Analysis of 17 Children with Hun

Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

✍ Chistiakov, Dimitry A.; Kuzenkova, Lyudmila M.; Savost'anov, Kirill V.; Gevorkya 📂 Article 📅 2014 🏛 Elsevier 🌐 Chinese ⚖ 994 KB

Molecular characterization of a large co

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study

✍ Gigliola Di Matteo; Lucia Giordani; Andrea Finocchi; Annamaria Ventura; Maria Ch 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 316 KB

Molecular analysis of the AGL gene: Iden

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

✍ Goldstein, Jennifer L; Austin, Stephanie L; Boyette, Keri; Kanaly, Angela; Veera 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 508 KB

Functional analysis reveals splicing mut

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

✍ Nathalie Roux-Buisson; John Rendu; Isabelle Denjoy; Pascale Guicheney; Alice Gol 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT. We

Clinical Aspects and Genetic Analysis of

Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations

✍ Wen-I Lee; Jing-Long Huang; Tang-Her Jaing; Kang-Hsi Wu; Yin-Hsiu Chien; Kuei-We 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 309 KB