heteroplasmic point mutation
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Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Frontiers in Immunology ◽

10.3389/fimmu.2019.01333 ◽

2019 ◽

Vol 10 ◽

Author(s):

Josef Finsterer

Keyword(s):

Point Mutation ◽

Executive Dysfunction ◽

Syndrome Type ◽

Melas Syndrome ◽

Polyglandular Autoimmune Syndrome ◽

Autoimmune Syndrome ◽

New Variant ◽

Heteroplasmic Point Mutation ◽

Polyglandular Autoimmune Syndrome Type

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New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Frontiers in Immunology ◽

10.3389/fimmu.2019.00412 ◽

2019 ◽

Vol 10 ◽

Author(s):

Dominique Endres ◽

Patrick Süß ◽

Simon J. Maier ◽

Evelyn Friedel ◽

Kathrin Nickel ◽

...

Keyword(s):

Point Mutation ◽

Executive Dysfunction ◽

Syndrome Type ◽

Melas Syndrome ◽

Polyglandular Autoimmune Syndrome ◽

Autoimmune Syndrome ◽

New Variant ◽

Heteroplasmic Point Mutation ◽

Polyglandular Autoimmune Syndrome Type

Download Full-text

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

Human Mutation ◽

10.1002/(sici)1098-1004(1999)13:3<203::aid-humu4>3.0.co;2-3 ◽

1999 ◽

Vol 13 (3) ◽

pp. 203-209 ◽

Author(s):

Massoud Houshmand ◽

Christopher Lindberg ◽

Ali-Reza Moslemi ◽

Anders Oldfors ◽

Elisabeth Holme

Keyword(s):

Point Mutation ◽

De Novo ◽

Sporadic Case ◽

Mitochondrial Encephalomyopathy ◽

De Novo Mutation ◽

Heteroplasmic Point Mutation

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Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots

The American Journal of Human Genetics ◽

10.1086/301636 ◽

1997 ◽

Vol 61 (6) ◽

pp. 1303-1308 ◽

Author(s):

Kate E. Bendall ◽

Vincent A. Macaulay ◽

Bryan C. Sykes

Keyword(s):

Point Mutation ◽

Heteroplasmic Point Mutation

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

British Journal of Haematology ◽

10.1046/j.1365-2141.1996.d01-1724.x ◽

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

Download Full-text