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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones, Melanie A; Rhodenizer, Devin; da Silva, Cristina; Huff, Israel J; Keong, Lisa; Bean, Lora J H; Coffee, Bradford; Collins, Christin; Tanner, Alice K; He, Miao; Hegde, Madhuri R.
Affiliation
  • Jones MA; Emory Genetics Laboratory, 2165 N. Decatur Road, Decatur, GA 30033, USA. melanie.a.jones@emory.edu
Mol Genet Metab ; 110(1-2): 78-85, 2013.
Article in En | MEDLINE | ID: mdl-23806237
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Full text: 1 Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Pathology, Molecular / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2013 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Pathology, Molecular / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2013 Type: Article Affiliation country: United States