Condition: Canavan Disease, Familial Form


rs756198538 in ASPA;SPATA22 gene and Canavan Disease, Familial Form PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 16854607 2006 Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 23253610 2012 Long-term follow-up after gene therapy for canavan disease.

rs12948217 in SPATA22;ASPA gene and Canavan Disease, Familial Form PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PMID 8023850 1994 Canavan disease: mutations among Jewish and non-Jewish patients.

PMID 11238686 2001 A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.

PMID 23253610 2012 Long-term follow-up after gene therapy for canavan disease.

PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

PMID 22850825 2013 Relationship between enzyme properties and disease progression in Canavan disease.

PMID 8252036 1993 Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

PMID 16854607 2006 Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 18978679 2008 Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

PMID 10701101 2000 Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 22878930 2013 Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

PMID 22019069 2011 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.