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Detection of four novel mutations in the iduronate-2-sulfatase gene
Human Mutation, 1998Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible
BALZANO N. +4 more
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Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome
The Journal of Pediatrics, 19771. Kasabach HH, and Merritt KK: Capillary hemangioma with extensive purpura, Am J Dis Child 59:1063, 1940. 2. Holden KR, and Alexander F: Diffuse neonatal hemangiomatosis, Pediatrics 46:411, 1970. 3. Koblenzer PJ, and Bukowski MS: Angiomatosis (hamartomatous hem-lymphangiomatosis), Pediatrics 28:65, 1961. 4.
Liebaers, Ingeborg +2 more
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Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
Clinical Genetics, 1998We studied 70 unrelated Hunter patients and found a gene alteration in every patient. The molecular heterogeneity was very important. Large gene rearrangements were identified in 14 patients. Forty‐three different mutations were identified in the 56 other patients and 31 were not previously described.
R, Froissart +7 more
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[Preparation of iduronate sulfatase from the human placenta].
Bollettino della Societa italiana di biologia sperimentale, 1979The preparation of the enzyme iduronate sulfatase from human placenta has been undertaken. The substrate O-(alpha-L-idopyranosyluronic acid 2-sulfate) (1 leads to 4)-2,5-anhydro-D-[3H]mannitol 6-sulfate was used to measure the enzymatic activity. The enzyme shows a pH optimum of 4.0 in 0.1 M sodium formiate or acetate buffer.
P, Di Natale, P, Murino, A, Perfumo
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Purification and some properties of human liver iduronate sulfatase.
Journal of biochemistry, 1982Iduronate sulfatase was purified from human liver for an investigation of the degradative pathway of dermatan sulfate. An overall 80-fold purification was achieved and, more importantly, the preparation was free of alpha-L-iduronidase, beta-glucuronidase, N-acetylgalactosamine 4-sulfate sulfatase (arylsulfatase B) and highly enriched in beta-N ...
T, Yutaka +3 more
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