The unfolding clinical spectrum of POLG mutations-Reference-Cited by-同舟云学术

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The unfolding clinical spectrum of POLG mutations

Published:2009-07-02 Issue:11 Volume:46 Page:776-785
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Blok M J,van den Bosch B J,Jongen E,Hendrickx A,de Die-Smulders C E,Hoogendijk J E,Brusse E,de Visser M,Poll-The B T,Bierau J,de Coo I F,Smeets H J

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 73 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency;Neurology Genetics;2024-08

2. Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation;Mitochondrion;2024-05

3. Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG;Revista de Neurología;2023

4. Ataxia and spastic paraplegia in mitochondrial disease;Mitochondrial Diseases;2023

5. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines;European Journal of Human Genetics;2022-12-13

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