Eight MKRN3 mutations described in ICPP patients so far have been mutations leading to an early stop codon, and only four missense mutations have been described previously. The p.Arg345His mutation identified in this study is situated in the C3HC4 RING domain of MKRN3 responsible for ...
He was homozygous for the novel hemojuvelin ( HJV ) premature stop-codon mutation R54X (exon 3; c.160A鈫扵). He did not have either HFE C282Y, H63D, or S65C, or deleterious coding region mutations of SLC40A1 , TFR2 , or HAMP . His erythrocyte measures and hemoglobin electrophoresis ...
A frameshift mutation in exon 6 (782delA) introduces a premature stop codon and is likely to lead to a non-functional truncated protein. No nucleotide changes were observed in exonic sequences in the other two early- or the three later-onset cases. Fifteen single nucleotide polymorphisms that ...
A frequent mutation in the IARC TP53 mutation database resides in codon 175. None of our samples showed this mutation. A control sample with this mutation was successfully analysed, confirming the negative result of this mutation in the described series. The codon 175 mutation might be a late ...
The most common mutations include the G to A substitution at nucleotide 1896 (G1896A) resulting in a premature stop codon in the pre-core region and disruption of HBeAg production, and a dual mutation (A1762T, G1764A) in the core promoter region that down regulates HBeAg production. These...
(Fig.1etop). The frameshift mutation in family C yielded a detectable protein containing a predicted 46-residues neopeptide within the SOCS box domain and a predicted premature stop codon removing the last three amino acid residues (Fig.1c–e). Other mutants were normally expressed in both ...
This deletion removes a 187-bp fragment of mRNA and, thus, predicts a frameshift mutation, resulting in a protein product truncated because of a premature stop codon (fig. 5). The quantity of the PCR product corresponding to the smaller cDNA was greatly reduced compared with the correctly ...
Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene We have reinvestigated a young woman, originally reported by us in 1983, who presented with exercise intolerance and lactic acidosis associated with severe... JA Keightley,R Anito...
Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V.关键词: Keywords Amyloid precursor protein Chemical cleavage of mismatch Early ...
Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. The patient came to our clinic for the first time when he was 44 years old. During the following 7 years, his Mini-Mental State ...