X Estivill|J Fontcuberta|J Félez - JoVE Visualize

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Human Mutation|January 1, 1992

Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish familiesJ M Soria, J Fontcuberta, M Borrell, et al.

Thrombosis Research|July 1, 1988

Quantitative and qualitative congenital deficiency of antithrombin III: a new molecular variant called ATIII-Barcelona 2J Fontcuberta, E Grau, N Rubio, et al.

Medicina Clinica|November 21, 1992

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency]J M Soria, I Ibáñez, J Fontcuberta, et al.

Human Genetics|November 1, 1993

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiencyJ M Soria, J Fontcuberta, M Chillón, et al.

Thrombosis and Haemostasis|February 25, 1988

AT III Barcelona: a familial quantitative-qualitative AT III deficiencyE Grau, J Fontcuberta, J Félez, et al.

Human Mutation|August 14, 1999

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiencyY Espinosa-Parrilla, M Morell, J C Souto, et al.

Human Mutation|May 2, 2000

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variantsY Espinosa-Parrilla, M Morell, M Borrell, et al.

Thrombosis and Haemostasis|July 1, 1994

Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C geneJ M Soria, D Brito, J Barceló, et al.

Angiology|November 1, 1986

Massive pulmonary embolism: short-term effects of thrombolytic treatmentE Grau, J Fontcuberta, M A Pagés, et al.

Thrombosis and Haemostasis|June 1, 1996

Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC geneJ M Soria, L P Berg, J Fontcuberta, et al.

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Showing results (1-10 of 433) with videos related to

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Pageof 44

Human Mutation|January 1, 1992

Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish familiesJ M Soria, J Fontcuberta, M Borrell, et al.

Thrombosis Research|July 1, 1988

Quantitative and qualitative congenital deficiency of antithrombin III: a new molecular variant called ATIII-Barcelona 2J Fontcuberta, E Grau, N Rubio, et al.

Medicina Clinica|November 21, 1992

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency]J M Soria, I Ibáñez, J Fontcuberta, et al.

Human Genetics|November 1, 1993

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiencyJ M Soria, J Fontcuberta, M Chillón, et al.

Thrombosis and Haemostasis|February 25, 1988

AT III Barcelona: a familial quantitative-qualitative AT III deficiencyE Grau, J Fontcuberta, J Félez, et al.

Human Mutation|August 14, 1999

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiencyY Espinosa-Parrilla, M Morell, J C Souto, et al.

Human Mutation|May 2, 2000

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variantsY Espinosa-Parrilla, M Morell, M Borrell, et al.

Thrombosis and Haemostasis|July 1, 1994

Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C geneJ M Soria, D Brito, J Barceló, et al.

Angiology|November 1, 1986

Massive pulmonary embolism: short-term effects of thrombolytic treatmentE Grau, J Fontcuberta, M A Pagés, et al.

Thrombosis and Haemostasis|June 1, 1996

Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC geneJ M Soria, L P Berg, J Fontcuberta, et al.

Pageof 44