Condition: Farber Lipogranulomatosis
rs137853593 in
ASAH1 gene and
Farber Lipogranulomatosis
PMID 20609603 2011 Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
PMID 26945816 2016 Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
PMID 16951918 2006 Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.
PMID 12638942 2002 Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
PMID 21893389 2012 Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
PMID 11241842 2001 Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
PMID 10993717 2000 Human acid ceramidase gene: novel mutations in Farber disease.
PMID 21982811 2012 A novel mutation in an atypical presentation of the rare infantile Farber disease.
PMID 10610716 1999 The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
PMID 27411168 2016 Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
PMID 8955159 1996 A homoallelic point mutation (T222K) was also identified in the AC gene of a patient suffering from Farber disease, further confirming the authenticity of the full-length cDNA.
PMID 8955159 1996 Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
PMID 24164096 2014 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
PMID 23707712 2013 Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.