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ABSTRACT:
SUBMITTER: Zykovich A
PROVIDER: S-EPMC5471396 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Zykovich Artem A Kinkade Renee R Royal Gary G Zankel Todd T
Molecular genetics and metabolism reports 20151027
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the <i>CTNS</i> gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 sample ...[more]