| pubmed-article:16951918 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0422792 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0268255 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C1513380 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:16951918 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:16951918 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:16951918 | pubmed:dateCreated | 2006-9-12 | lld:pubmed |
| pubmed-article:16951918 | pubmed:abstractText | Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various tissues. It usually manifests within a few months after birth with a unique triad of symptoms, including painful and progressive deformed joints, progressive hoarseness and subcutaneous nodules. The disease is inherited as an autosomal recessive trait, and mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which codes for the acid ceramidase enzyme, have been shown to cause the disease. In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family. The mutation was identified in the eighth exon and is a missense mutation resulting in replacement of Valine by Leucine at codon 182. Two affected siblings harboured the identical mutation. The possible mechanism(s) of disease caused by this mutation are discussed. | lld:pubmed |
| pubmed-article:16951918 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16951918 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16951918 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:16951918 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16951918 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16951918 | pubmed:issn | 1434-5161 | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:GopikrishnaMu... | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:DeviAkela... | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:GowrishankarS... | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:RatheeshRaman... | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:SavithriGorin... | lld:pubmed |
| pubmed-article:16951918 | pubmed:author | pubmed-author:BashyamMurali... | lld:pubmed |
| pubmed-article:16951918 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16951918 | pubmed:volume | 51 | lld:pubmed |
| pubmed-article:16951918 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16951918 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16951918 | pubmed:pagination | 811-4 | lld:pubmed |
| pubmed-article:16951918 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
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| pubmed-article:16951918 | pubmed:meshHeading | pubmed-meshheading:16951918... | lld:pubmed |
| pubmed-article:16951918 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16951918 | pubmed:articleTitle | Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. | lld:pubmed |
| pubmed-article:16951918 | pubmed:affiliation | Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nacharam, Hyderabad, 500076, India. | lld:pubmed |
| pubmed-article:16951918 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16951918 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16951918 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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