Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

Monia B. Hammer,Ghada Eleuch-Fayache,J. R. Gibbs,Sampath Arepalli,Sean B. Chong,Celeste Sassi,Yosr Bouhlal,Fayçal Hentati,Rim Amouri,Ab Singleton

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

2013

Monia B. Hammer
Ghada Eleuch-Fayache
J. R. Gibbs
Sampath Arepalli
Sean B. Chong
Celeste Sassi
Yosr Bouhlal
Fayçal Hentati
Rim Amouri
Ab Singleton

Background Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied 3 families diagnosed with ARCA.

Keywords:

Autosomal recessive cerebellar ataxia
Exome sequencing
Exome
Spinocerebellar ataxia
Ataxia
Apolipoproteins b
Age of onset
Genetics
Medicine
heterogeneous group
base sequence

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations