✦ LIBER ✦

Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency

✍ Scribed by G. CASTAMAN; S. H. GIACOMELLI; V. SCHROEDER; S. SANNA; L. VALDRÈ; M. MORFINI; L. BANOV; H. P. KOHLER; F. RODEGHIERO

Book ID: 108775845
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 248 KB
Volume: 18
Category: Article
ISSN: 1351-8216
DOI: 10.1111/j.1365-2516.2011.02622.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular characterization of five Itali

Molecular characterization of five Italian families with inherited severe factor XIII deficiency

✍ G. CASTAMAN; S. H. GIACOMELLI; V. IVASKEVICIUS; V. SCHROEDER; H. P. KOHLER; A. D 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

Mutations affecting disulphide bonds con

Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency

✍ V. IVASKEVICIUS; A. BISWAS; R. LORETH; V. SCHROEDER; S. OHLENFORST; H. ROTT; M. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Familial occurrence of isolated IgA defi

Familial occurrence of isolated IgA deficiency associated with antibodies to IgA. Evidence against a structural gene defect

✍ Erna van Loghem 📂 Article 📅 1974 🏛 John Wiley and Sons 🌐 English ⚖ 460 KB

## Abstract Two families were investigated for the occurrence of IgA deficiency and antibodies to IgA. Several members of the families were found to be deficient for IgA1, as well as for IgA2, which strongly suggested that the disorder is genetically determined. By means of typing for genetic marke

TWIST gene mutation in a patient with ra

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

✍ Gripp, Karen W.; Stolle, Catherine A.; Celle, Livija; McDonald-McGinn, Donna M.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria

Mutations in the MCFD2 gene and a novel

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII

✍ Dipika Mohanty; Kanjaksha Ghosh; Shrimati Shetty; Marta Spreafico; Isabella Gara 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 2 views

Molecular characterization of a novel mu

Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis

✍ N. TRIGUI; C. FRÈRE; C. D'ERCOLE; H. CHAMBOST; N. CHAPUIS; C. POUYMAYOU; P. MORA 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 419 KB