Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1808-1811

  Baskin, Berivan ^a   Geraghty, Michael ^b   Ray, Peter N ^a,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Chromosome 2; Isodisomy; Long chain 3 hydroxyacyl CoA dehydrogenase; Uniparental disomy

Indexed keywords

ACYLCARNITINE; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HADHA GENE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT TANDEM REPEAT; UNIPARENTAL DISOMY; CHROMOSOME SEGREGATION; DEFICIENCY; FATHER; GENETICS; GENOTYPE; INFANT; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PREGNANCY;

3-HYDROXYACYL COA DEHYDROGENASES; BASE SEQUENCE; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; FATHERS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LONG-CHAIN-3-HYDROXYACYL-COA DEHYDROGENASE; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PREGNANCY; UNIPARENTAL DISOMY;

EID: 77954097967     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33462     Document Type: Article

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