Literature DB >> 7639758

Identification of a de Novo point mutation resulting in infantile form of Pompe's disease.

C Y Lin, J J Shieh.   

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Year:  1995        PMID： 7639758     DOI： 10.1006/bbrc.1995.2139

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  1 in total

1.  Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Authors:  Lukana Ngiwsara; Duangrurdee Wattanasirichaigoon; Thipwimol Tim-Aroon; Kitiwan Rojnueangnit; Saisuda Noojaroen; Arthaporn Khongkraparn; Phannee Sawangareetrakul; James R Ketudat-Cairns; Ratana Charoenwattanasatien; Voraratt Champattanachai; Chulaluck Kuptanon; Suthipong Pangkanon; Jisnuson Svasti
Journal:  BMC Med Genet       Date:  2019-09-11       Impact factor: 2.103
  1 in total

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