{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:04:34Z","timestamp":1792166674406,"version":"4.4.0"},"reference-count":16,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,11]]},"abstract":"<jats:p>The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler\/Scheie (MPS IH\/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing). Patient W2 is homozygous for mutation T364M (C to T transition in codon 364). The mutation was paternally inherited. A de novo deletion or gene conversion event may have resulted in apparent homozygosity for T364M. Expression of Y343X and T364M showed trace amounts of alpha-L-iduronidase activity compared to that of normal cDNA upon transfection into COS-7 cells.<\/jats:p>","DOI":"10.1136\/jmg.34.11.939","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"939-941","source":"Crossref","is-referenced-by-count":30,"title":["Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler\/Scheie syndrome in Chinese families."],"prefix":"10.1136","volume":"34","author":[{"given":"G J","family":"Lee-Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T R","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,11,1]]},"reference":[{"key":"ref_1","first-page":"1565","article-title":"The mucopolysaccharidoses","volume-title":"The metabolic basis of inherited diseases","author":"Neufeld, E.F.; Muenzer, J.","year":"1989","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases. 6th ed. New York: McGraw-Hill, 1989:1565-87.","edition":"6th ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"9695","DOI":"10.1073\/pnas.88.21.9695","article-title":"Human ct-L-iduronidase: cDNA isolation and expression","volume":"88","author":"Scott, H.S.; Anson, D.S.; Orsborn, A.M.","year":"1991","unstructured":"Scott HS, Anson DS, Orsborn AM, et al. Human ct-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci USA 1991;88:9695-9.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1016\/0888-7543(92)90053-U","article-title":"Structure and sequence of the human a-L-iduronidase gene","volume":"13","author":"Scott, H.S.; Guo, X.H.; Hopwood, J.J.; Morris, C.P.","year":"1992","unstructured":"Scott HS, Guo XH, Hopwood JJ, Morris CP. 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