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Molecular analysis of multiple genetic variants in Spanish FXII-deficient families.

Authors: Mordillo, C  Martinez-Marchan, E  Fontcuberta, J  Soria, JM 
Citation: Mordillo C, etal., Haematologica. 2007 Nov;92(11):1569-72.
Pubmed: (View Article at PubMed) PMID:18024408
DOI: Full-text: DOI:10.3324/haematol.11388

We studied 3 Spanish patients with <1% FXII levels. DNA sequencing of the whole F12 gene identified 15 genetic variants. Molecular analyses of F12 mRNA demonstrated that the deficiency was caused by 5281delG in exon 9 of Patient 1 (in the homozygous state) and the 6306delG in exon 12 and another deletion of 23 bp in intron 8 of Patient 2 (both in the heterozygous state). Finally, a G-8C transversion was found in the homozygous state in Patient 3. Based on previous data, including a mouse model, the G-8C might be responsible for the FXII deficiency. None of these variants were present in 40 controls.


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CRRD Object Information
CRRD ID: 11041805
Created: 2016-03-29
Species: All species
Last Modified: 2016-03-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.