Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome-Reference-Cited by-同舟云学术

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Published:2012-12 Issue:4 Volume:107 Page:700-704
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Haudry Coralie,de Lonlay Pascale,Malan Valerie,Bole-Feysot Christine,Assouline Zahra,Pruvost Solenn,Brassier Anais,Bonnefont Jean-Paul,Munnich Arnold,Rötig Agnès,Lebre Anne-Sophie

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference27 articles.

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2. Structural basis for substrate specificities of cellular deoxyribonucleoside kinases;Johansson;Nat. Struct. Biol.,2001

3. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations;Freisinger;Arch. Neurol.,2006

4. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency;Labarthe;J. Hepatol.,2005

5. The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies;Mandel;Hepatology,2001

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1. Natural history of deoxyguanosine kinase deficiency;Molecular Genetics and Metabolism;2024-09

2. A novel homozygous mutation, c.662_672del, in DGUOK gene causing mitochondrial DNA depletion syndrome of type hepatocerebral – A case report;Clinics and Research in Hepatology and Gastroenterology;2024-04

3. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome;Brain Communications;2024

4. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01

5. Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction;Molecular Cytogenetics;2023-08-23