TY - GEN 
AU - Bermúdez, Marta
AU - Frank, Nina
AU - Bernal, Jaime
AU - Urreizti, Roser
AU - Briceño, Ignacio
AU - Merinero, Begoña
AU - Perez Cerdá, Celia
AU - Ugarte, Magdalena
AU - Grinberg, Daniel
AU - Balcells, Susana
AU - Jan, P. Kraus
PY - 2006
UR - http://hdl.handle.net/10818/57864
AB - Homocystinuria is an autosomal recessive disease most commonly caused by mutationsin cystathionine β-synthase (CBS).  In this study we present the mutation analysis of 36 Colombian   individuals   from   10   unrelated   kindred,   with   11  ...
AB - La homocistinuria es una enfermedad autosomica recesiva causada mas comunmente por mutaciones en la cistationina β-sintasa (CBS). En este estudio presentamos el analisis de mutaciones de 36 individuos colombianos de 10 familias no relacionadas, con 11...
LA - eng
PB - Human mutation
KW - Hiperhomocisteinemia
KW - Cistationina beta sintasa
KW - CBS
KW - Homocistinuria
KW - Sindrome de Klinefelter
KW - Criptorquidia
KW - Metilentetraquia
KW - drofolato reductasa
KW - MTHFR
KW - Piridoxina
KW - no responde
KW - Hyperhomocysteinemia
KW - Cystathionine beta synthase
KW - CBS
KW - Homocystinuria
KW - Klinefelter syndrome
KW - Cryptorchidism
KW - Methylenetetrahy
KW - drofolate reductase
KW - MTHFR
KW - Pyridoxine
KW - non-responsive
TI - High Prevalence of CBS p.T191M Mutation in Homocystinuric Patients from Colombia
DO - 10.1002/humu.9416
ER -