… In many cases, they were also confirmed by restriction digestion or allele specific hybridization,
or both. The activity of GCD mutations expressed in Escherichia coli was determined by …

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… DNA (mtDNA) replication defects or tumor formation. With the … The assays may be performed
on tissue homogenates or in … X-100, cholic acid, or dodecyl maltoside. A number of assays …

Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with
three patients who presented with severe infantile encephalopathy associated with …

… Genomic DNA was extracted from blood samples from the two patients and 10 unaffected
family members, after informed consent was obtained from the subjects or their guardians. To …

… only 740 homozygous coding or splice site variants were present in the eight homozygous
regions. Thirty variants were not annotated in dbSNP132, in the 1,000-genome or in our in-…

… We report on ten individuals with a fatal infantile encephalopathy and/or pulmonary …
First symptoms started at age 1–9 months, and all the individuals died on or before the age …

… The mutations identified in our patients, which create a stop codon at residues 215, 388,
and 800 or produce frame shifts as a result of exons’ being skipped, are thus predicted to result …

Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result
from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver …