Literature DB >> 15521993

Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.

I J Lee, S H Hwang, B H Jeon, S M Song, J S Kim, K H Paik, E K Kwon, D-K Jin.   

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Year:  2004        PMID： 15521993     DOI： 10.1111/j.1399-0004.2004.00374.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

Review 1.  An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Authors:  Sung Yoon Cho; Young Bae Sohn; Dong-Kyu Jin
Journal:  Intractable Rare Dis Res       Date:  2014-08

2.  Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Authors:  Luning Sun; Chunyi Li; Xiaoyu Song; Ningning Zheng; Haipeng Zhang; Guizhang Dong
Journal:  Genet Mol Biol       Date:  2011-04-01       Impact factor: 1.771

3.  Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".

Authors:  Edina Poletto; Ursula Matte; Guilherme Baldo
Journal:  BMC Med Genet       Date:  2018-10-04       Impact factor: 2.103

4.  Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Authors:  E Yu Voskoboeva; T M Bookina; A N Semyachkina; S V Mikhaylova; N D Vashakmadze; G V Baydakova; E Yu Zakharova; S I Kutsev
Journal:  Front Mol Biosci       Date:  2022-01-24

5.  Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.

Authors:  Cheng-Yung Lin; Hsiang-Yu Lin; Chih-Kuang Chuang; Po-Hsiang Zhang; Yuan-Rong Tu; Shuan-Pei Lin; Huai-Jen Tsai
Journal:  J Pers Med       Date:  2022-07-23

6.  Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Authors:  Min Jung Kwak; Rimm Huh; Jinsup Kim; Hyung-Doo Park; Sung Yoon Cho; Dong-Kyu Jin
Journal:  BMC Med Genet       Date:  2016-08-12       Impact factor: 2.103
  6 in total

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