Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation

Neurology

Volumn 64, Issue 8, 2005, Pages 1426-1430

  Flusser, H ^a   Korman, S H ^b   Sato, K ^c   Matsubara, Y ^c   Galil, A ^a   Kure, S ^c  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOMETHYLTRANSFERASE; CARBOXYLYASE; GENOMIC DNA; GLYCINE; GLYCINE CLEAVAGE SYSTEM PROTEIN H; GLYCINE DEHYDROGENASE (DECARBOXYLATING); PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AGGRESSION; AMINO ACID BLOOD LEVEL; ARTICLE; BASE PAIRING; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONVULSION; DAILY LIFE ACTIVITY; DNA SPLICING; EXON; FEMALE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERGLYCINEMIA; IRRITABILITY; LANGUAGE ABILITY; LYMPHOBLAST; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NORTHERN BLOTTING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SILENT GENE;

EID: 17644409768     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000158475.12907.D6     Document Type: Article

References (17)

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