Reduced amplification efficiency of KIAA0027/MLC1 alleles: Implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Molecular and Cellular Probes

Volumn 16, Issue 5, 2002, Pages 379-384

  Bettecken, T ^a   Rubie, C ^b   Lichtner, P ^a   Siekiera, M ^b   Meitinger, T ^a   Stöber, Gerald ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Allele; Amplification; Gene; KIAA0027; Megalencephalic leukoencephalopathy; MLC; Mutation; Schizophrenia; Variant

Indexed keywords

ALLELE; ALLELISM; ARTICLE; BRAIN CYST; BRAIN SPONGIOSIS; CHILDHOOD DISEASE; EXON; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTRON; LEUKOENCEPHALOPATHY; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MOTOR DYSFUNCTION; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FOLDING; SCHIZOPHRENIA; SEQUENCE ANALYSIS; TANDEM REPEAT; CANAVAN DISEASE; DIAGNOSTIC PROCEDURE; GENETICS; MULTIINFARCT DEMENTIA; PEDIGREE; STANDARD;

INSERTION SEQUENCES;

MEMBRANE PROTEIN; MLC1 PROTEIN, HUMAN; PRIMER DNA;

ALLELES; CANAVAN DISEASE; DEMENTIA, VASCULAR; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; HUMANS; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SCHIZOPHRENIA; VARIATION (GENETICS);

EID: 0036813224     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.2002.0438     Document Type: Article

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