Frameshift Mutation
Original Article Novel HOXD13 frameshift mutation causes synpolydactyly and clinodactyly
... heterozygous frameshift mutation of HOXD13 ...This mutation was detected in the proband by whole-exome sequencing and confirmed by Sanger ...This mutation co-segragated among family members ...
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Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
... or frameshift, 10% are splice site, 15% are mis- sense, and 5% are whole-gene or chromosomal deletion, exonic deletion and chromosomal rearrangement ...that mutation in EFTUD2 (OMIM 603892) at chromosome ...
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Testing the Hypothesis that the Nylonase NylB Protein Arose de novo via a Frameshift Mutation
... isolated frameshift mutation that arose sometime after ...single frameshift mutation, in just a few decades, could not possibly have proliferated via horizontal gene transfer across a very ...
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A frameshift mutation in the human apolipoprotein A I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol acyltransferase deficiency, and corneal opacities
... Rapid Publication A Frameshift Mutation in the Human Apolipoprotein A-I Gene Causes High Density Lipoprotein Deficiency, Partial Lecithin: Cholesterol-Acyltransferase Deficiency, and Cor[r] ...
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A Frameshift Mutation in MC1R and a High Frequency of Somatic Reversions Cause Black Spotting in Pigs
... second mutation in the form of a 2-bp insertion at codon 23 ...This mutation expands a tract of six C nucleotides to eight and introduces a premature stop codon at position ...This frameshift ...
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Molecular basis for congenital deficiency of alpha 2 plasmin inhibitor A frameshift mutation leading to elongation of the deduced amino acid sequence
... This frameshift mutation leads to an alteration and elongation of the carboxyl-terminal portion of the deduced amino acid ...this frameshift mutation in all the affected family members ...
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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder
... Case presentation: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis. COX-deficient ...
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A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
... novel frameshift mutation ...this mutation is similar to frameshift mutations previously reported in ELN, for ex- ample ...[33]. Frameshift mutations of human elastin gene have been ...
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A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
... detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing with the forward primer: 5′-TTC TCT GCT TTC AAA TGC TCT TC-3′ and the reverse primer: 5′-CAG GAA GTT AGC CAT ...
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Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
... Gene Mutation Database ...or frameshift (19%) ...reported mutation worldwide, which was associated with an attenu- ated NPD type B phenotype ...This mutation was found in a patient with NPD ...
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Adaptive reversion of a frameshift mutation in Escherichia coli.
... During exponential growth the rate of rever- sion is about lo-’ per cell generation (Table 1); most of the revertants are fully restored to the wild type growth rat[r] ...
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MECHANISMS OF SPONTANEOUS AND INDUCED FRAMESHIFT MUTATION IN BACTERIOPHAGE T4
... If mutagenesis is due to in- tercalation within the misaligned stretch proposed in the bulge model, the frequency of induced addition and deletion mutation ought [r] ...
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Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review Of The literature
... with mutation at codon ...with mutation at codon 1309 had attenuated form of ...of frameshift mutation in FAP patients, we would need to enlarge our sample size and further screening of this ...
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Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis
... no frameshift mutation but suffered from severely impaired ...one mutation and behaved ...the mutation could have been missed in the sequencing, or there is a large ...tected mutation ...
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Genetic Evidence that EBNA-1 Is Needed for Efficient, Stable Latent Infection by Epstein-Barr Virus
... the frameshift mutation remained linked to the selective marker among the recombi- nant viruses that were generated, stocks of B652InNco were obtained by transient transfection of B95-8 cells and used to ...
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Clinical and molecular findings in a Moroccan family with Jervell and Lange Nielsen syndrome: a case report
... homozygous mutation of connexin ...heterozygous frameshift mutation described in this report (KCNQ1, ...this mutation in a homozygous ...
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Mutational Analysis of Stubble-stubbloid Gene Structure and Function in Drosophila Leg and Bristle Morphogenesis
... a frameshift mutation that adds a C-terminal hydrophobic sequence to the protease domain, arguably disabling the protease by interfering with folding and transmembrane process- ...
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Melanocortin 4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
... for mutation using the mutation- specific PCR-RFLP assays designed for the association ...the mutation carriers had a history of obesity, but the age of onset and the severity of obesity varied ...
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Impaired secretion of the elongated mutant of protein C (protein C Nagoya) Molecular and cellular basis for hereditary protein C deficiency
... a frameshift mutation and substitution of the last 39 amino acids (381Gly-419Pro) with 81 abnormal amino acid residues, and we have designated this elongated variant as Protein ...this mutation was ...
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A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype phenotype review of EYA4 in deafness
... truncating mutation of EYA4 in a Hungarian family was revealed with an insertion of 4 bp ...novel frameshift mutation, ...point mutation in EYA4 that was hypothesized to lead to aberrant ...
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