Carrier screening for Canavan disease in Australia

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 289-290

  Howell, V M ^a,b   Proos, A L ^a   LaRue, D ^b   Jensen, C H ^a   Beach, F ^a   Burnett, L ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTOACYLASE; DNA; RNA;

ALLELE; AMINO ACID SUBSTITUTION; AMPLICON; ANAMNESIS; ARTICLE; AUSTRALIA; CANAVAN DISEASE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; FAMILY STUDY; FEMALE; FIBROBLAST CULTURE; GENE DELETION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; INFORMED CONSENT; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MUTATION RATE; POPULATION RESEARCH; RNA EXTRACTION; SKIN BIOPSY;

AUSTRALIA; CANAVAN DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; JEWS; POINT MUTATION;

EID: 2942536398     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028837.63607.f0     Document Type: Article

References (3)

1. Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A (1994) The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. Am J Hum Genet 55: 287-288.
2. Kronn D, Oddoux C, Phillips J, Ostrer H (1995) Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 57: 1250-1252.
3. Shaag A, Anikster Y, Christensen E, et al (1995) The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet 57: 572-580.