A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. (Q52873752)

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2 April 2020

title

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia (English)

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15

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Marco Tartaglia

17

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John Christodoulou

20

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Marcello Niceta

6

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Daria Diodato

11

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Michela Di Nottia

12

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Enza Maria Valente

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Carlo Dionisi-Vici

19

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Enrico Bertini

21

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R Carrozzo

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2 April 2020

author name string

A Torraco

1

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M Bianchi

2

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D Verrigni

3

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V Gelmetti

4

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L Riley

5

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D Martinelli

7

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A Montanari

8

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Y Guo

9

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T Rizza

10

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B Lucarelli

13

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F Sorrentino

14

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S Francisci

16

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publication date

25 May 2016

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2 April 2020

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volume

91

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page(s)

441-447

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issue

3

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

2 April 2020

cites work

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Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

21 January 2018

1 reference

Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

21 January 2018

1 reference

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

21 January 2018

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A long road towards the structure of respiratory complex I, a giant molecular proton pump

21 January 2018

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Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

21 January 2018

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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

21 January 2018

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Sideroblastic anemia: diagnosis and management.

21 January 2018

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Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

21 January 2018

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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

21 January 2018

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

21 January 2018

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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

21 January 2018

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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

21 January 2018

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An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

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Identifiers

DOI

10.1111/CGE.12790

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2 April 2020

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