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Patients with EIF2AK3 and KATP channel mutations were appropriate for gestational age (birth weight between −2 s.d. and +2 s.d)., whereas patients with mutations in GCK, PTF1A, INS and 6q24 methylation abnormality were small for gestational age (birth weight <−2 s.d).
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Furthermore, genetic testing for such mutations is appropriate only in cases meeting certain criteria.
Because of the large increase in glutamate sensitivity and a demonstrated lack of coupling between the T6′S mutation and the ligand binding site, we concluded that incorporation of T6′S as a background mutation is appropriate for measuring large loss-of-function mutations in the GluClβ receptor.
— were appropriate.
The resulting library of beta-galactosidase (β-gal) mutants consisted mostly (∼80%) of hypomorphs, suggesting that the mutation rate was appropriate for directed evolution applications.
Since our subjects all had genotype C virus, this high frequent BCP mutation rate is appropriate.
In summary, mutation screening is appropriate when sonography during pregnancy reveals findings suggestive of a skeletal dysplasia, especially when the karyotype does not explain the abnormal sonographic findings.
Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings.
Although the methodology used for the mutation screening is appropriate and was shown to be sensitive and robust [23], a recent report exposed some limitations to the current methods, which included false negative calling due to human error in data and sample handling [12].
Correct mutations were verified by appropriate PCRs.
Because ERBB2 is a druggable target 52, cell lines that exhibit only KRAS but not ERBB2 mutations may not be appropriate models for PAC tumors with both KRAS and ERBB2 mutations.
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