View in EDS

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Saved in:
Bibliographic Details
Title: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Authors: Mohammed, Mohammed1 (AUTHOR), Al-Hashmi, Nadia1 (AUTHOR), Al-Rashdi, Samiya2 (AUTHOR), Al-Sukaiti, Nashat1 (AUTHOR), Al-Adawi, Kawther3 (AUTHOR), Al-Riyami, Marwa3 (AUTHOR), Al-Maawali, Almundher1,2,4 (AUTHOR) almaawali@squ.edu.om
Source: European Journal of Medical Genetics. Nov2019, Vol. 62 Issue 11, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
FullText Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 139216615
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Mohammed%2C+Mohammed%22">Mohammed, Mohammed</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Hashmi%2C+Nadia%22">Al-Hashmi, Nadia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Rashdi%2C+Samiya%22">Al-Rashdi, Samiya</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Sukaiti%2C+Nashat%22">Al-Sukaiti, Nashat</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Adawi%2C+Kawther%22">Al-Adawi, Kawther</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Riyami%2C+Marwa%22">Al-Riyami, Marwa</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Maawali%2C+Almundher%22">Al-Maawali, Almundher</searchLink><relatesTo>1,2,4</relatesTo> (AUTHOR)<i> almaawali@squ.edu.om</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Medical+Genetics%22">European Journal of Medical Genetics</searchLink>. Nov2019, Vol. 62 Issue 11, pN.PAG-N.PAG. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=139216615
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ejmg.2018.11.017
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 1
        StartPage: N.PAG
    Titles:
      – TitleFull: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mohammed, Mohammed
      – PersonEntity:
          Name:
            NameFull: Al-Hashmi, Nadia
      – PersonEntity:
          Name:
            NameFull: Al-Rashdi, Samiya
      – PersonEntity:
          Name:
            NameFull: Al-Sukaiti, Nashat
      – PersonEntity:
          Name:
            NameFull: Al-Adawi, Kawther
      – PersonEntity:
          Name:
            NameFull: Al-Riyami, Marwa
      – PersonEntity:
          Name:
            NameFull: Al-Maawali, Almundher
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: Nov2019
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-print
              Value: 17697212
          Numbering:
            – Type: volume
              Value: 62
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: European Journal of Medical Genetics
              Type: main
ResultId 1