Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination.

Saved in:
Bibliographic Details
Title: Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination.
Authors: Huang, Si1 (AUTHOR), Li, Yiyang2 (AUTHOR), Xin, Jing1 (AUTHOR), Mo, Wenhui1 (AUTHOR), Lin, Xiuwen1 (AUTHOR), Mai, Bingbin1 (AUTHOR), He, Junbin1 (AUTHOR), Zhong, Xiaoli1 (AUTHOR), Xu, Jiaxin1 (AUTHOR) 465138909@qq.com
Source: Molecular Genetics & Genomic Medicine. May2026, Vol. 14 Issue 5, p1-7. 7p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 194013655
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Huang%2C+Si%22">Huang, Si</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Yiyang%22">Li, Yiyang</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xin%2C+Jing%22">Xin, Jing</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mo%2C+Wenhui%22">Mo, Wenhui</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lin%2C+Xiuwen%22">Lin, Xiuwen</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mai%2C+Bingbin%22">Mai, Bingbin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22He%2C+Junbin%22">He, Junbin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhong%2C+Xiaoli%22">Zhong, Xiaoli</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xu%2C+Jiaxin%22">Xu, Jiaxin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> 465138909@qq.com</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. May2026, Vol. 14 Issue 5, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=194013655
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/mgg3.70225
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Huang, Si
      – PersonEntity:
          Name:
            NameFull: Li, Yiyang
      – PersonEntity:
          Name:
            NameFull: Xin, Jing
      – PersonEntity:
          Name:
            NameFull: Mo, Wenhui
      – PersonEntity:
          Name:
            NameFull: Lin, Xiuwen
      – PersonEntity:
          Name:
            NameFull: Mai, Bingbin
      – PersonEntity:
          Name:
            NameFull: He, Junbin
      – PersonEntity:
          Name:
            NameFull: Zhong, Xiaoli
      – PersonEntity:
          Name:
            NameFull: Xu, Jiaxin
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: May2026
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 23249269
          Numbering:
            – Type: volume
              Value: 14
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Molecular Genetics & Genomic Medicine
              Type: main
ResultId 1