Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation (Q34319932)

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English	Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation	scientific article

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scholarly article

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1 August 2017

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation (English)

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1 August 2017

Feyza Darendeliler

7

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Feyza Darendeliler

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Maureen O'Sullivan

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Maureen O'Sullivan

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Richard Caswell

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Richard Caswell

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Andrew Green

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Sarah E Flanagan

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Michael N Weedon

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Michael N Weedon

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Peter E. Clayton

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Peter E Clayton

Peter T Clayton

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Sian Ellard

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Zeynep Şıklar

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Zeynep Siklar

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1 August 2017

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Nuala Murphy

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1 August 2017

Indraneel Banerjee

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Indraneel Banerjee

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1 August 2017

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Weijia Xie

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1 August 2017

Annet Damhuis

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1 August 2017

Christine Vianey-Saban

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1 August 2017

Teoman Akcay

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1 August 2017

Firdevs Bas

8

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1 August 2017

Ayla Guven

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1 August 2017

Gonul Ocal

11

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1 August 2017

Merih Berberoglu

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1 August 2017

Khalid Hussain

19

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1 August 2017

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publication date

27 December 2012

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1 August 2017

American Journal of Human Genetics

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1 August 2017

92

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1 August 2017

1

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1 August 2017

131-136

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1 August 2017

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

1 reference

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6 July 2018

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

1 reference

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6 July 2018

Abnormal splice in a mutant human beta-globin gene not at the site of a mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

6 July 2018

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

28 October 2018

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

28 October 2018

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

28 October 2018

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

28 October 2018

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542457

28 October 2018

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23273570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/23273570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23273570

12 December 2020

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inferred from PubMed ID database lookup

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23273570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2012.11.017

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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