Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
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| Title: | Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). |
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| Authors: | Bodamer OA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F |
| Source: | American journal of medical genetics [Am J Med Genet] 2002 May 15; Vol. 109 (4), pp. 328-31. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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