Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency

Clinica Chimica Acta

Volumn 426, Issue , 2013, Pages 13-17

  Cho, Sun Young ^a,b   Goh, Denise Li Meng ^c,d   Lau, Kin Chong ^a   Ong, Hian Tat ^c,d   Lam, Ching wan ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b Kyung Hee University Hospital   (South Korea)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

Chromosome 12; LOH; SNP array; SUOX; UPD

Indexed keywords

SULFITE OXIDASE;

ARTICLE; CASE REPORT; CHROMOSOME 12; CHROMOSOME DELETION; ENZYME DEFICIENCY; FEMALE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; INFANT; ISOLATED SULFITE OXIDASE DEFICIENCY; MICROARRAY ANALYSIS; PARENT; PRIORITY JOURNAL; SUOX GENE; UNIPARENTAL DISOMY;

CHROMOSOME 12; LOH; SNP ARRAY; SUOX; UPD;

CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; INFANT; LOSS OF HETEROZYGOSITY; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; UNIPARENTAL DISOMY;

EID: 84884319393     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.08.013     Document Type: Article

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