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FI 2016

1,125
© Thomson Reuters, Journal Citation Reports, 2016

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  • Factor de Impacto: 1,125(2016)
  • 5-años Factor de Impacto: 1,292
  • SCImago Journal Rank (SJR):0,221
  • Source Normalized Impact per Paper (SNIP):0,385

© Thomson Reuters, Journal Citation Reports, 2016

Med Clin 2001;116:138-41 - DOI: 10.1016/S0025-7753(01)71750-2
Nota Clínica
Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B
Identification and characterization of the first spanish familial ligand-defective apolipoprotein B homozygote
José Tomás Real, Ismael Ejarque, Miguel Civera, Juan Francisco Ascaso, Rafael Carmena
Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario. Universidad de Valencia.
Javier Francisco Chavesa, José Javier Martín de Llanoa, Ervin Knechta, María Eugenia Armengoda
a Instituto de Investigaciones Citológicas de Valencia (FVIB).
Recibido 17 julio 2000, Aceptado 12 diciembre 2000
Resumen
Background

Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB.

Methods

We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and have identified the first Spanish homozygote for FDB.

Results

The homozygote is a 58 year-old man with coronary heart disease, no presence of xanthomata and with total cholesterol and LDL cholesterol plasma levels of 415 and 352 mg/dl. The response to statins and resins was up to 42% for total cholesterol and 51% for LDLc plasma values. The LDL receptor activity was normal in the FDB homozygote.

Conclusions

We have identified and characterised the first Spanish homozygote for FDB (R3500Q mutation). Our data indicate a moderate lipoprotein phenotype in FDB homozygote, different as expected comparing to homozygous FH.

Palabras Clave
Defecto familiar de unión de apolipoproteína B, Homocigosis, Mutación R3500Q, Análisis por PCR-SSCP, Gen de la apo B, Actividad del receptor de LDL
Key words
Homozygous familial ligand-defective apolipoprotein B, R3500Q mutation, SSCP analysis, Apo B gene, LDL receptor activity
El Texto completo solo está disponible en PDF
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Correspondence: Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario de Valencia. Avda. Blasco Ibáñez, 15. 46010 Valencia.
Copyright © 2001. Elsevier España, S.L.