View in EDS HTML Full Text PDF Full Text

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

Saved in:
Bibliographic Details
Title: Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.
Authors: Amri, Yessine1,2 (AUTHOR) amri.yessine@yahoo.com, Chouchene, Saoussen3,4 (AUTHOR), Foddha, Hajer4 (AUTHOR), Abderahmene, Amani5 (AUTHOR), Kooli, Ikbel6 (AUTHOR), Toumi, Adnen6 (AUTHOR), Hadj Khalifa, Kawthar4 (AUTHOR), Mezrigui, Rihem3 (AUTHOR), Messaoud, Taieb1 (AUTHOR), Hassine, Mohsen3 (AUTHOR), Dabboubi, Rym1 (AUTHOR)
Source: BMC Medical Genomics. 5/27/2025, Vol. 18 Issue 1, p1-13. 13p.
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: 185447643
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Amri%2C+Yessine%22">Amri, Yessine</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> amri.yessine@yahoo.com</i><br /><searchLink fieldCode="AR" term="%22Chouchene%2C+Saoussen%22">Chouchene, Saoussen</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Foddha%2C+Hajer%22">Foddha, Hajer</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Abderahmene%2C+Amani%22">Abderahmene, Amani</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kooli%2C+Ikbel%22">Kooli, Ikbel</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Toumi%2C+Adnen%22">Toumi, Adnen</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hadj+Khalifa%2C+Kawthar%22">Hadj Khalifa, Kawthar</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mezrigui%2C+Rihem%22">Mezrigui, Rihem</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Messaoud%2C+Taieb%22">Messaoud, Taieb</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hassine%2C+Mohsen%22">Hassine, Mohsen</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dabboubi%2C+Rym%22">Dabboubi, Rym</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 5/27/2025, Vol. 18 Issue 1, p1-13. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185447643
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12920-025-02145-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 13
        StartPage: 1
    Titles:
      – TitleFull: Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Amri, Yessine
      – PersonEntity:
          Name:
            NameFull: Chouchene, Saoussen
      – PersonEntity:
          Name:
            NameFull: Foddha, Hajer
      – PersonEntity:
          Name:
            NameFull: Abderahmene, Amani
      – PersonEntity:
          Name:
            NameFull: Kooli, Ikbel
      – PersonEntity:
          Name:
            NameFull: Toumi, Adnen
      – PersonEntity:
          Name:
            NameFull: Hadj Khalifa, Kawthar
      – PersonEntity:
          Name:
            NameFull: Mezrigui, Rihem
      – PersonEntity:
          Name:
            NameFull: Messaoud, Taieb
      – PersonEntity:
          Name:
            NameFull: Hassine, Mohsen
      – PersonEntity:
          Name:
            NameFull: Dabboubi, Rym
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 27
              M: 05
              Text: 5/27/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 17558794
          Numbering:
            – Type: volume
              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC Medical Genomics
              Type: main
ResultId 1