Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.

A mitochondrial A 3243 G mutation in the tRNA(Leu(UUR)) gene was first described as a common cause of MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome). This same mutation is also the cause of a totally different disorder, a subtype of diabetes mellit...

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Hauptverfasser: Yorifuji, T, Kawai, M, Momoi, T, Sasaki, H, Furusho, K, Muroi, J, Shimizu, K, Takahashi, Y, Matsumura, M, Nambu, M, Okuno, T
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1996
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050677/
https://ncbi.nlm.nih.gov/pubmed/8818955
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