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Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease.
National Institutes of Health

Related topics

Related topics

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AH Receptor-Interacting Protein

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity… 
Highly Cited
2011
Highly Cited
2011
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Background This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and… 
Highly Cited
2010
Highly Cited
2010
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Highly Cited
2010
Highly Cited
2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Highly Cited
2010
Highly Cited
2010
Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR.
Highly Cited
2006
Highly Cited
2006
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?
We have read with great satisfaction that Rossenbacker and Priori,1 in their editorial to our article (‘Diagnostic Criteria for… 
Highly Cited
2001
Highly Cited
2001
A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders
Highly Cited
1997
Highly Cited
1997
Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
Highly Cited
1993
Highly Cited
1993
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.
Highly Cited
1991
Highly Cited
1991
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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