A heteroplasmic point mutation of mitochondrial tRNA Leu(CUN) in non‐lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia

1996 ◽  
Vol 93 (4) ◽  
pp. 845-855 ◽  
Author(s):  
Norbert Gattermann ◽  
Stefan Retzlaff ◽  
Yan‐Ling Wang ◽  
Mark Berneburg ◽  
Jürgen H einisch ◽  
...  
Keyword(s):  
Point Mutation ◽  
Mitochondrial Trna ◽  
Cell Lineages ◽  
Sideroblastic Anaemia ◽  
Heteroplasmic Point Mutation

A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features

2010 ◽  
Vol 297 (1-2) ◽  
pp. 105-108 ◽  
Author(s):  
Edoardo Malfatti ◽  
Elena Cardaioli ◽  
Carla Battisti ◽  
Paola Da Pozzo ◽  
Alessandro Malandrini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Late Onset ◽  
Mitochondrial Trna

scholarly journals Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots

1997 ◽  
Vol 61 (6) ◽  
pp. 1303-1308 ◽  
Author(s):  
Kate E. Bendall ◽  
Vincent A. Macaulay ◽  
Bryan C. Sykes
Keyword(s):  
Point Mutation ◽  
Hair Roots ◽  
Heteroplasmic Point Mutation

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA(Leu) gene (m.3243A>G)

2008 ◽  
Vol 31 (S3) ◽  
pp. 497-503 ◽  
Author(s):  
D. M. Sproule ◽  
J. Dyme ◽  
J. Coku ◽  
D. de Vinck ◽  
E. Rosenzweig ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
Point Mutation ◽  
Pulmonary Artery Hypertension ◽  
Mitochondrial Trna

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene

1995 ◽  
Vol 4 (8) ◽  
pp. 1421-1427 ◽  
Author(s):  
Valeria Tiranti ◽  
Patrick Chariot ◽  
Francesco Carella ◽  
Antonio Toscano ◽  
Paola Soliveri ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Point Mutation ◽  
Mitochondrial Trna

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu(UUR) gene

Diabetes ◽  
1994 ◽  
Vol 43 (6) ◽  
pp. 746-751 ◽  
Author(s):  
J. M. W. van den Ouweland ◽  
H. H. P. J. Lemkes ◽  
R. C. Trembath ◽  
R. Ross ◽  
G. Velho ◽  
...  
Keyword(s):  
Point Mutation ◽  
Single Point ◽  
Single Point Mutation ◽  
Mitochondrial Trna ◽  
Inherited Diabetes ◽  
Distinct Subtype

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

Neurology ◽  
2001 ◽  
Vol 56 (3) ◽  
pp. 405-407 ◽  
Author(s):  
M. Bataillard ◽  
E. Chatzoglou ◽  
L. Rumbach ◽  
D. Sternberg ◽  
A. Tournade ◽  
...  
Keyword(s):  
Point Mutation ◽  
Melas Syndrome ◽  
Mitochondrial Trna
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