Early onset of Friedreich's ataxia in a compound heterozygote

Archives of Disease in Childhood

Volumn 83, Issue 1, 2000, Pages 74-75

  McGovern, Mary Claire ^a   Stewart, Moira ^b   Morrison, Patrick J ^c   Webb, David ^d   Hawkins, Stanley ^b  

^a CRAIGAVON AREA HOSPITAL   (United Kingdom)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c BELFAST CITY HOSPITAL   (United Kingdom)

^d ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Atypical; Friedreich's ataxia; Genetics

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 9; FEMALE; FRIEDREICH ATAXIA; HETEROZYGOSITY; HUMAN; NERVE CONDUCTION; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

AGE OF ONSET; CHILD; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FRIEDREICH ATAXIA; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; PEDIGREE; POINT MUTATION; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0033914106     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.83.1.74     Document Type: Article

References (6)

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