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Genotype analysis indicated that the patient was homozygous for the D409H mutation. It is tempting to relate the phenotype of severe cardiac involvement to the D409H\/D409H genotype, although further cases will be needed before this association can be confirmed.<\/jats:p>","DOI":"10.1136\/jmg.32.9.740","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"740-742","source":"Crossref","is-referenced-by-count":102,"title":["Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation."],"prefix":"10.1136","volume":"32","author":[{"given":"A","family":"Chab\u00e1s","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Cormand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Grinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Burguera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Balcells","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Merino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Mate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Sobrino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Gonz\u00e0lez-Duarte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Vilageliu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,9,1]]},"reference":[{"key":"ref_1","first-page":"1677","article-title":"Glucosylceramide lipidoses: Gaucher disease","volume-title":"The metabolic basis of inherited disease","author":"Barranger, J.A.; El, Ginns","year":"1989","unstructured":"Barranger JA, Ginns El. 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