Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

Journal of Human Genetics

Volumn 57, Issue 10, 2012, Pages 687-690

  Niida, Yo ^a   Kuroda, Mondo ^a   Mitani, Yusuke ^a   Yokoi, Ayano ^a   Ozaki, Mamoru ^b  

^a KANAZAWA UNIVERSITY   (Japan)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

arylsulfatase A; autosomal recessive inheritance; metachromatic leukodystrophy; SNP array; uniparental isodisomy

Indexed keywords

CEREBROSIDE SULFATASE; LEUKOCYTE ENZYME;

ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22; CHROMOSOME MUTATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXANTHEMA SUBITUM; FAMILY STUDY; FATHER; GAIT DISORDER; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; KARYOTYPE; LEUKODYSTROPHY; MALE; METACHROMATIC LEUKODYSTROPHY; METAPHASE; MICROSATELLITE MARKER; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; PYRAMIDAL SIGN; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; WILD TYPE;

ABNORMAL KARYOTYPE; ALLELES; CEREBROSIDE-SULFATASE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; ENZYME ACTIVATION; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEUKOCYTES; LEUKODYSTROPHY, METACHROMATIC; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 84867940248     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.97     Document Type: Article

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