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1.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Hum Mutat
; 35(11): 1285-9, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25130867
2.
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Mitochondrion
; 23: 64-70, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26022780
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