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In keeping with the importance of this ALK mutation, patients with tumors carrying ALK mutation at residue 1174 were found to have a poor clinical outcome19.
In comparison with patients with a HADH mutation, patients with a HNF4A mutation were heavier (birth weight SDS +2.36 (HNF4A) vs −1.08 (HADH), P=0.002).
Survival analyses compared results for patients with each mutation, patients with at least one of the 3 mutations versus those who had no mutations (Tables 2 and 3).
In contrast to patients with a HNF4A or KATP channel mutation, patients with a GLUD1/HADH mutation were diagnosed later and were of normal birth weight.
In the normal karyotype cohort, we found no significant difference in the outcome of four groups: patients with an N-terminal out-of-frame mutation, patients with a C-terminal in-frame mutation, patients with an N-terminal out-of-frame mutation and a C-terminal in-frame mutation, and WT patients, which may be due to the small sample size.
It has been reported that the most severe prognosis is in the CFH mutation patients, with 70% reaching ESRD, and that patients with MCP mutations have a relapsing course, but none have reached ESRD in the first year [ 8].
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A new mutation patient with NF1 has been identified with a de novo 0.5-kilobase insertion in the NF1LT gene.
Compared to the subgroups wild-type and other HFE mutations, patients with HFE-HH genotypes were more likely to develop HCC (OR = 5.0, P = 0.032).
Steele-Stallard, H. B. et al. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
The KRAS mutation remains the most common driver mutation in patients with non-small cell lung cancer (NSCLC) and confers a poor prognosis.
High WBC was observed in patients harbouring complex mutations, while patients with point mutations exhibited lower WBC (p = 0.035).
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