Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1432-1203
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects ; volume:140 ; number:8 ; day:11 ; month:5 ; year:2021 ; pages:1143-1156 ; date:8.2021
Human genetics ; 140, Heft 8 (11.5.2021), 1143-1156, 8.2021

Creator
Janecke, Andreas
Liu, Xiaoqin
Adam, Rüdiger
Punuru, Sumanth
Viestenz, Arne
Strauß, Valeria
Laass, Martin
Sanchez, Elizabeth
Adachi, Roberto
Schatz, Martha P.
Saboo, Ujwala S.
Mittal, Naveen
Rohrschneider, Klaus
Escher, Johanna
Ganesh, Anuradha
Zuhaibi, Sana Al
Murshedi, Fathiya Al
AlSaleem, Badr
Alfadhel, Majid
Sinani, Siham Al
Alkuraya, Fowzan S.
Huber, Lukas A.
Müller, Thomas
Heidelberger, Ruth
Janz, Roger
Contributor
SpringerLink (Online service)

DOI
10.1007/s00439-021-02284-1
URN
urn:nbn:de:101:1-2021101601381318248035
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:30 AM CEST

Data provider

This object is provided by:
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Associated

  • Janecke, Andreas
  • Liu, Xiaoqin
  • Adam, Rüdiger
  • Punuru, Sumanth
  • Viestenz, Arne
  • Strauß, Valeria
  • Laass, Martin
  • Sanchez, Elizabeth
  • Adachi, Roberto
  • Schatz, Martha P.
  • Saboo, Ujwala S.
  • Mittal, Naveen
  • Rohrschneider, Klaus
  • Escher, Johanna
  • Ganesh, Anuradha
  • Zuhaibi, Sana Al
  • Murshedi, Fathiya Al
  • AlSaleem, Badr
  • Alfadhel, Majid
  • Sinani, Siham Al
  • Alkuraya, Fowzan S.
  • Huber, Lukas A.
  • Müller, Thomas
  • Heidelberger, Ruth
  • Janz, Roger
  • SpringerLink (Online service)

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