A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

Journal of Human Genetics

Volumn 50, Issue 5, 2005, Pages 230-234

  Boneh, Avihu ^a,c   Korman, Stanley H ^a   Sato, Kenichi ^b   Kanno, Junko ^b   Matsubara, Yoichi ^b   Lerer, Israela ^a   Ben Neriah, Ziva ^a   Kure, Shigeo ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Glycine decarboxylase; Glycine encephalopathy; Initiation codon; Mutation; Non ketotic hyperglycinemia

Indexed keywords

CARBOXYLYASE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); MESSENGER RNA; METHIONINE; NUCLEOTIDE; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY; FEMALE; GENE FUNCTION; GENE MUTATION; GLYCINE ENCEPHALOPATHY; HETEROZYGOTE; HUMAN; HYPERGLYCINEMIA; INCIDENCE; ISRAEL; MALE; METABOLIC DISORDER; POPULATION GENETICS; RNA ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; START CODON;

AMINO ACID OXIDOREDUCTASES; AMINO ACID SUBSTITUTION; ARABS; CODON, INITIATOR; FEMALE; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; ISRAEL; MALE; METHIONINE; PEDIGREE; POINT MUTATION; RNA, MESSENGER; THREONINE;

EID: 17644367791     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0243-y     Document Type: Article

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