Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing

Clinica Chimica Acta

Volumn 471, Issue , 2017, Pages 191-195

  Yang, Aram ^a   Cho, Sung Yoon ^a   Jang, Ja Hyun ^b   Kim, Jinsup ^a   Kim, Sook Za ^c   Lee, Beom Hee ^d   Yoo, Han Wook ^d   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Green Cross Corporation   (South Korea)

^c Korea Genetic Research Center   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

Author keywords

CDG IIh; Cerebellar atrophy; COG8; Congenital disorder of glycosylation

Indexed keywords

ALANINE; ARGININE; LEUCINE; LIVER ENZYME; TRANSFERRIN; COG8 PROTEIN, HUMAN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLUBFOOT; COG8 GENE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME BLOOD LEVEL; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE; GENETIC SCREENING; GENETIC VARIABILITY; HEPATITIS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; ISOELECTRIC FOCUSING; KOREAN (PEOPLE); LIVER BIOPSY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; WHOLE EXOME SEQUENCING; EXOME; GENETICS; MUTATION;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; EXOME; HETEROZYGOTE; HUMANS; MALE; MUTATION; WHOLE EXOME SEQUENCING;

EID: 85020740370     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2017.06.010     Document Type: Article

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