✦ LIBER ✦

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

✍ Scribed by Colobran, Roger; Lois, Sergio; de la Cruz, Xavier; Pujol-Borrell, Ricardo; Hernández-González, Manuel; Guilarte, Mar

Book ID: 121973846
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 483 KB
Volume: 150
Category: Article
ISSN: 1090-2341
DOI: 10.1016/j.clim.2013.11.013

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel and recurrent

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema

✍ Firinu, Davide; Colomba, Paolo; Manconi, Paolo Emilio; Barca, Maria P.; Fenu, Lu 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 287 KB

Identification of a novel mutation of C1

Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema*1

✍ ZHI, Y 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 24 KB

Novel splice site mutation of SPG4 in a

Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia

✍ Liu, Xiaomin; Tang, Jiyou 📂 Article 📅 2014 🏛 Springer Milan 🌐 English ⚖ 406 KB

A novel splice-site mutation in ECM-1 ge

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis

✍ Liran Horev; Tamara Potikha; Sharon Ayalon; Vered Molho-Pessach; Arieh Ingber; M 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 619 KB

A Novel Splice Site Mutation in theSERPI

A Novel Splice Site Mutation in theSERPING1Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

✍ Colobran, Roger; Pujol-Borrell, Ricardo; Hernández-González, Manuel; Guilarte, M 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 538 KB

Hereditary angioedema: The mutation spec

Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort

✍ Olga Roche; Alvaro Blanch; Christiane Duponchel; Gumersindo Fontán; Mario Tosi; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB 👁 1 views

## Communicated by Daniel F. Schorderet Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southe