Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

Molecular Genetics and Metabolism

Volumn 84, Issue 2, 2005, Pages 167-171

  Sellner, Loryn ^a   Edkins, Edward ^a,b   Greed, Lawrence ^a   Lewis, Barry ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b EDITH COWAN UNIVERSITY   (Australia)

Author keywords

Deletion; GLDC; Glycine decarboxylase; Mutation; NKH; Nonketotic hyperglycinaemia

Indexed keywords

CARBOXYLYASE;

ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERGLYCINEMIA; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL SCREENING; PRIORITY JOURNAL; SCREENING; SOUTHERN BLOTTING;

AMINO ACID OXIDOREDUCTASES; BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; FEMALE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT, NEWBORN; MALE; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 12844274432     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.10.001     Document Type: Article

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