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Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I.

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Title: Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Authors: Yan, Lulu1 (AUTHOR), Ding, Shuxia2 (AUTHOR), He, Yan2 (AUTHOR), Fu, Bin3 (AUTHOR), Chen, Changshui4 (AUTHOR), Li, Haibo1 (AUTHOR) lihaibo‐775@163.com
Source: Molecular Genetics & Genomic Medicine. Aug2024, Vol. 12 Issue 8, p1-11. 11p.
Database: Academic Search Ultimate
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  Data: Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I.
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  Data: <searchLink fieldCode="AR" term="%22Yan%2C+Lulu%22">Yan, Lulu</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ding%2C+Shuxia%22">Ding, Shuxia</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22He%2C+Yan%22">He, Yan</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fu%2C+Bin%22">Fu, Bin</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Changshui%22">Chen, Changshui</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Haibo%22">Li, Haibo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> lihaibo‐775@163.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Aug2024, Vol. 12 Issue 8, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=179320795
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1002/mgg3.2507
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      – Code: eng
        Text: English
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        PageCount: 11
        StartPage: 1
    Titles:
      – TitleFull: Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I.
        Type: main
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          Name:
            NameFull: Yan, Lulu
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          Name:
            NameFull: Ding, Shuxia
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          Name:
            NameFull: He, Yan
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            NameFull: Fu, Bin
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            NameFull: Chen, Changshui
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            NameFull: Li, Haibo
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          Dates:
            – D: 01
              M: 08
              Text: Aug2024
              Type: published
              Y: 2024
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              Value: 12
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              Value: 8
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            – TitleFull: Molecular Genetics & Genomic Medicine
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