A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease

Journal of the Neurological Sciences

Volumn 330, Issue 1-2, 2013, Pages 123-126

  Shimojima, Keiko ^a   Tanaka, Ryuta ^b   Shimada, Shino ^a   Sangu, Noriko ^a   Nakayama, Junko ^c   Iwasaki, Nobuaki ^c   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c IBARAKI PREFECTURAL UNIVERSITY OF HEALTH SCIENCES   (Japan)

Author keywords

GJC2 (GJA12); Loss of heterozygosity (LOH); Mutation; Pelizaeus Merzbacher like disease; SNP genotyping microarray; Uniparental disomy (UPD)

Indexed keywords

GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN GAMMA 2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 1; FEMALE; GENE DOSAGE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; INHERITANCE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

CHROMOSOME BANDING; CONNEXINS; DNA; EPILEPSY; FEMALE; GENE DOSAGE; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION; KARYOTYPING; MICROARRAY ANALYSIS; MUSCLE SPASTICITY; MUTATION; MYELIN SHEATH; NYSTAGMUS, PATHOLOGIC; PELIZAEUS-MERZBACHER DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY; YOUNG ADULT;

EID: 84878546821     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.04.017     Document Type: Article

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