Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22

Blood Cells, Molecules, and Diseases

Volumn 49, Issue 2, 2012, Pages 114-117

  Huang, Yu Hsiu ^a,b   Tai, Chang Long ^a,c   Lu, Yung Hsiu ^a,b   Wu, Tina Jui Ting ^a   Chen, Hong Duo ^c   Niu, Dau Ming ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (China)

Author keywords

CYB5R3 gene; Microsatellite genotyping; NADH cytochrome b5 reductase; Recessive congenital methemoglobinemia; Uniparental disomy

Indexed keywords

CYTOCHROME B5 REDUCTASE; GENOMIC DNA; METHEMOGLOBIN;

ARTERIAL OXYGEN SATURATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CYB5R3 GENE; CYTOCHROME B5 REDUCTASE DEFICIENCY TYPE 1; DISOMY; ENZYME DEFICIENCY; FAMILY HISTORY; GENE; GENE MUTATION; HEREDITARY METHEMOGLOBINEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PULSE OXIMETRY; SCHOOL CHILD; SEGMENTAL ISODISOMY; UNIPARENTAL DISOMY;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 22; CYTOCHROME B GROUP; CYTOCHROME-B(5) REDUCTASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; METHEMOGLOBINEMIA; MICROSATELLITE REPEATS; MUTATION; UNIPARENTAL DISOMY;

EID: 84863835357     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.05.005     Document Type: Article

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