Literature DB >> 15243987

Carrier screening for Canavan disease in Australia.

V M Howell1, A L Proos, D LaRue, C H Jensen, F Beach, L Burnett.   

Abstract

This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.

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Year:  2004        PMID: 15243987     DOI: 10.1023/b:boli.0000028837.63607.f0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  1 in total

1.  Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Authors:  Sunita Bijarnia; Sudha Kohli; Ratna Dua Puri; Rintu J Jacob; Renu Saxena; Anil Jalan; Eric A Sistermans; Saqib Mahmood; Ishwar Chander Verma
Journal:  Indian J Pediatr       Date:  2012-08-10       Impact factor: 1.967

  1 in total

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