The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Classical homocystinuria is due to cystathionine b-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exce...

Full description

Autores:

Córdoba Porras, Alfonso
Urreizti, Roser
Asteggiano, Carla
Bermudez, Marta
Szlago, Mariana
Grosso, Carola
Dodelson de Kremer, Raquel
Vilarinho, Laura
D’Almeida, Vania
Martínez Pardo, Mercedes
Peña Quintana, Luis
Dalmau, Jaime
Bernal, Jaime
Briceño, Ignacio
Couce, María Luz
Rodés, Marga
Vilaseca, Maria Antonia
Balcells, Susana
Grinberg, Daniel

Tipo de recurso:

Article of investigation

Fecha de publicación:

2006

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/48357

Acceso en línea:

https://hdl.handle.net/10495/48357

Palabra clave:

Homocistinuria
Homocystinuria
América Latina
Latin America
España
Spain
Portugal
Alelos
Alleles
Distribución de Chi-Cuadrado
Chi-Square Distribution
Cistationina betasintasa
Cystathionine beta-Synthase
Frecuencia de los Genes
Gene Frequency
Haplotipos
Haplotypes
Mutación
Mutation
Linaje
Pedigree
https://id.nlm.nih.gov/mesh/D006712
https://id.nlm.nih.gov/mesh/D007843
https://id.nlm.nih.gov/mesh/D013030
https://id.nlm.nih.gov/mesh/D011174
https://id.nlm.nih.gov/mesh/D000483
https://id.nlm.nih.gov/mesh/D016009
https://id.nlm.nih.gov/mesh/D003541
https://id.nlm.nih.gov/mesh/D005787
https://id.nlm.nih.gov/mesh/D006239
https://id.nlm.nih.gov/mesh/D009154
https://id.nlm.nih.gov/mesh/D010375
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Rights

openAccess

License

http://creativecommons.org/licenses/by/4.0/