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| pubmed-article:8146180 | lifeskim:mentions | umls-concept:C0001128 | lld:lifeskim |
| pubmed-article:8146180 | lifeskim:mentions | umls-concept:C0008387 | lld:lifeskim |
| pubmed-article:8146180 | lifeskim:mentions | umls-concept:C0014894 | lld:lifeskim |
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| pubmed-article:8146180 | lifeskim:mentions | umls-concept:C1334064 | lld:lifeskim |
| pubmed-article:8146180 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:8146180 | pubmed:dateCreated | 1994-5-5 | lld:pubmed |
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| pubmed-article:8146180 | pubmed:abstractText | The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosomal lipid storage disorder. The genomic locus consists of 10 exons spread over 36 kb. The 5' flanking region is G+C-rich and has characteristics of a "housekeeping" gene promoter. One of the identified mutations involves the insertion of a T residue after position 634, resulting in the appearance of an in-frame translation stop signal 13 codons downstream. The second mutation is a T-to-C transition at nucleotide 638. This results in a leucine-to-proline substitution at amino acid 179 and is predicted to lead to the disruption of the alpha-helical structure in a highly conserved region of the protein. These mutations are each capable of completely disrupting the catalytic function of the lysosomal acid cholesteryl ester hydrolase; their presence can account for the extreme phenotype of the lysosomal lipid storage disorder manifested in members of this patient's family. | lld:pubmed |
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| pubmed-article:8146180 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:8146180 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8146180 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8146180 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:8146180 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:8146180 | pubmed:author | pubmed-author:CoatesP MPM | lld:pubmed |
| pubmed-article:8146180 | pubmed:author | pubmed-author:AndersonR ARA | lld:pubmed |
| pubmed-article:8146180 | pubmed:author | pubmed-author:SandoG NGN | lld:pubmed |
| pubmed-article:8146180 | pubmed:author | pubmed-author:ByrumR SRS | lld:pubmed |
| pubmed-article:8146180 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8146180 | pubmed:day | 29 | lld:pubmed |
| pubmed-article:8146180 | pubmed:volume | 91 | lld:pubmed |
| pubmed-article:8146180 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8146180 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8146180 | pubmed:pagination | 2718-22 | lld:pubmed |
| pubmed-article:8146180 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8146180 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8146180 | pubmed:articleTitle | Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. | lld:pubmed |
| pubmed-article:8146180 | pubmed:affiliation | Department of Internal Medicine, Wake Forest University Medical Center, Winston-Salem, NC 27157. | lld:pubmed |
| pubmed-article:8146180 | pubmed:publicationType | Journal Article | lld:pubmed |
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