Soria JM - Search Results

1

Aberrant RNA splicing of the protein C and protein S genes in healthy individuals.

Berg LP, Soria JM, Formstone CJ, Morell M, Kakkar VV, Estivill X, Sala N, Cooper DN. Berg LP, et al. Among authors: soria jm. Blood Coagul Fibrinolysis. 1996 Sep;7(6):625-31. doi: 10.1097/00001721-199609000-00008. Blood Coagul Fibrinolysis. 1996. PMID: 8899152

2

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency].

Soria JM, Ibáñez I, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Med Clin (Barc). 1992 Nov 21;99(17):649-52. Med Clin (Barc). 1992. PMID: 1280311 Review. Spanish.

3

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 families.

Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Mutat. 1992;1(5):428-31. doi: 10.1002/humu.1380010514. Hum Mutat. 1992. PMID: 1301954

4

A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene.

Soria JM, Morell M, Estivill X, Sala N. Soria JM, et al. Hum Genet. 1995 Aug;96(2):243-4. doi: 10.1007/BF00207392. Hum Genet. 1995. PMID: 7635483

5

Abnormal polymerization and normal binding of plasminogen and t-PA in three new dysfibrinogenaemias: Barcelona III and IV (gamma Arg 275-->His) and Villajoyosa (gamma Arg 275-->Cys).

Borrell M, Garí M, Coll I, Vallvé C, Tirado I, Soria JM, Sala N, Muñoz C, Oliver A, García A, et al. Borrell M, et al. Among authors: soria jm. Blood Coagul Fibrinolysis. 1995 May;6(3):198-206. doi: 10.1097/00001721-199505000-00002. Blood Coagul Fibrinolysis. 1995. PMID: 7654933

6

Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.

Soria JM, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, Estivill X, Sala N. Soria JM, et al. Thromb Haemost. 1994 Jul;72(1):65-9. Thromb Haemost. 1994. PMID: 7974377

7

Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.

Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Mol Genet. 1994 Jul;3(7):1205-6. doi: 10.1093/hmg/3.7.1205. Hum Mol Genet. 1994. PMID: 7981702 No abstract available.

8

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.

Soria JM, Fontcuberta J, Chillón M, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Genet. 1993 Nov;92(5):506-8. doi: 10.1007/BF00216459. Hum Genet. 1993. PMID: 8244342

9

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.

Soria JM, Morell M, Jiménez-Astorga C, Estivill X, Sala N. Soria JM, et al. Thromb Haemost. 1995 Nov;74(5):1215-20. Thromb Haemost. 1995. PMID: 8607097

10

Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients.

Soria JM, Morell M, Estivill X, Sala N. Soria JM, et al. Hum Mutat. 1996;8(1):71-3. doi: 10.1002/(SICI)1098-1004(1996)8:1<71::AID-HUMU10>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8807339 No abstract available.

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