Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

American Journal of Medical Genetics

Volumn 140 A, Issue 9, 2006, Pages 1004-1009

  Zeng, Wen Qi ^a,e   Gao, Hanlin ^a,e   Brueton, Louise ^b   Hutchin, Tim ^c   Gray, George ^c   Chakrapani, Anupam ^c   Olpin, Simon ^d   Shih, Vivian E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

Chromosome 1; Fumarase deficiency; Fumarate hydratase FH; Inborn error of metabolism; Uniparental disomy

Indexed keywords

FUMARATE HYDRATASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME MARKER; ENZYME DEFICIENCY; FEMALE; FH GENE; FUMARASE DEFICIENCY; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HOMOZYGOSITY; HUMAN; NEWBORN; PATERNITY; PRIORITY JOURNAL; RECURRENCE RISK; UNIPARENTAL DISOMY; WILD TYPE;

BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FEMALE; FUMARATE HYDRATASE; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; UNIPARENTAL DISOMY;

EID: 33646087675     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31186     Document Type: Article

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