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A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 268-271, 2018.
Article in Chinese | WPRIM | ID: wpr-687962
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic basis for a patient with oculodentodigital dysplasia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.</p><p><b>RESULTS</b>A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.</p><p><b>CONCLUSION</b>The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Tooth Abnormalities / Foot Deformities, Congenital / Eye Abnormalities / Sequence Analysis, DNA / Connexin 43 / Syndactyly / Craniofacial Abnormalities / Exome / Genetics / Mutation Type of study: Prognostic study Limits: Adult / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Tooth Abnormalities / Foot Deformities, Congenital / Eye Abnormalities / Sequence Analysis, DNA / Connexin 43 / Syndactyly / Craniofacial Abnormalities / Exome / Genetics / Mutation Type of study: Prognostic study Limits: Adult / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article