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Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation.
National Institutes of Health

Papers overview

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2017
2017
Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons
2014
2014
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
2011
2011
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif
BackgroundMultiple acyl-coenzyme A dehydrogenase deficiency (MADD) is an autosomal recessive disease caused by the defects in the… 
2008
2008
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
Purpose To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation… 
2005
2005
TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In… 
2002
2002
Novel Mutation Involving the Translation Initiation Codon of the Growth Hormone Receptor Gene (GHR) in a Patient with Laron Syndrome
Laron syndrome (LS) or growth hormone (GH) insensitivity syndrome (GHIS) is an autosomal recessive disease due to molecular… 
Highly Cited
2001
Highly Cited
2001
A novel N-ras mutation in malignant melanoma is associated with excellent prognosis.
Mutations in the ras gene are key events in the process of carcinogenesis; in particular, point mutations in codon 61 of exon 2… 
2001
2001
Somatic beta-catenin mutation in gastric carcinoma--an infrequent event that is not specific for microsatellite instability.
2000
2000
A novel mutation in the pendrin gene associated with Pendred's syndrome
Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification… 
1999
1999
Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1…
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