Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Author： Ezgu Fatih   Çiftci Bahattin   Topçu Burcu   Adıyaman Gülcan   Gökmenoğlu Hatice   Küçükçongar Aynur   Kasapkara Çiğdem   Biberoğlu Gürsel   Tümer Leyla   Hasanoğlu Alev  

Publisher： Springer Publishing Company

ISSN： 0885-7490

Source： Metabolic Brain Disease, Vol.29, Iss.1, 2014-03, pp. : 211-213

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Variants with a low allele frequency detected in genomic DNA affect the accuracy of mutation detection in cell‐free DNA by next‐generation sequencing

By  

CANCER, Vol. 124, Iss. 5, 2018-03 ,pp. : 1061-1069

John Wiley & Sons Inc

Access to resources Recommend Favorite

Next generation sequencing in pediatric hepatology and liver transplantation

By  

LIVER TRANSPLANTATION, Vol. 24, Iss. 2, 2018-02 ,pp. : 282-293

John Wiley & Sons Inc

Access to resources Recommend Favorite

Aneuploidy Detection and mtDNA Quantification in Bovine Embryos with Different Cleavage Onset Using a Next-Generation Sequencing-Based Protocol

By  

Cytogenetic and Genome Research, Vol. 150, Iss. 1, 2016-12 ,pp. : 60-67

Karger

Access to resources Recommend Favorite

Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase

By Kanekar Sangam   Byler Debra  

Metabolic Brain Disease, Vol. 28, Iss. 4, 2013-12 ,pp. : 717-720

Springer Publishing Company

Access to resources Recommend Favorite

Next‐generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma

By  

EXPERIMENTAL DERMATOLOGY (ELECTRONIC), Vol. 24, Iss. 2, 2015-02 ,pp. : 152-155

John Wiley & Sons Inc

Access to resources Recommend Favorite