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Estudios genéticos sobre espina Bífida en Chile: por dónde comenzar?: [revisión] / Genetic studies of spina bifida in Chile: where do we start?: [review]
Pardo V., Rosa; Suazo S., José Lorenzo; Castillo T., Silvia.
  • Pardo V., Rosa; Hospital Clínico Universidad de Chile. Departamento de Medicina. Sección Genética. Santiago. CL
  • Suazo S., José Lorenzo; Universidad de Chile. Facultad de Medicina. Instituto de Ciencias Biomédicas. Santiago. CL
  • Castillo T., Silvia; Hospital Clínico Universidad de Chile. Departamento de Medicina. Sección Genética. Santiago. CL
Rev. Hosp. Clin. Univ. Chile ; 22(2): 120-131, 2011. graf
Article Dans Espagnol | LILACS | ID: lil-613260
ABSTRACT
Neural tube defects (NTDs) are a group of congenital anomalies that affect the central nervious system. Spina Bifida (SB) is the most frecuent NTD in live births andi t is usually associated to disease, disability; and mortality. NTDs are considered as a multifactorial disease. Women who use folic acid periconceptionally are at a 50-70% reduced risk for NTD-affected pregnancies. More than 80 candidates genes to SB are been studied, someones related to folic acid metabolic pathway. MTHFR gene is the gene more studied in NTDs. Its allele 677T is asóciate to higher risk to NTD. It is important to study polymorphisms in MTHFR gene in Chile because Chilean population has dfferent ethnic origen from others previous studied populations.
Sujets)
Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Dysraphie spinale Limites du sujet: Femelle / Humains / Nouveau-né / Grossesse Pays comme sujet: Amérique du Sud / Chili langue: Espagnol Texte intégral: Rev. Hosp. Clin. Univ. Chile Thème du journal: Médicament Année: 2011 Type: Article Pays d'affiliation: Chili Institution/Pays d'affiliation: Hospital Clínico Universidad de Chile/CL

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Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Dysraphie spinale Limites du sujet: Femelle / Humains / Nouveau-né / Grossesse Pays comme sujet: Amérique du Sud / Chili langue: Espagnol Texte intégral: Rev. Hosp. Clin. Univ. Chile Thème du journal: Médicament Année: 2011 Type: Article Pays d'affiliation: Chili Institution/Pays d'affiliation: Hospital Clínico Universidad de Chile/CL