Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
AUTOR(ES)
Barber, John C K
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050683Documentos Relacionados
- Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
- Medical genetics: advances in brief: Diagnosing Friedreich's ataxia
- Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria
- Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency
- Medical genetics: advances in brief: Bone marrow transplantation for autosomal recessive osteopetrosis