A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

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

Bibliographic citation
A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family ; volume:23 ; number:1 ; day:23 ; month:3 ; year:2023 ; pages:1-8 ; date:12.2023
BMC ophthalmology ; 23, Heft 1 (23.3.2023), 1-8, 12.2023

Creator
Aziz, Nobia
Ullah, Mukhtar
Rashid, Abdur
Hussain, Zubair
Shah, Khadim
Awan, Azeem
Khan, Muhammad
Ullah, Inam
Rehman, Atta Ur
Contributor
SpringerLink (Online service)

DOI
10.1186/s12886-023-02845-0
URN
urn:nbn:de:101:1-2023081121053588926929
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:51 AM CEST

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Associated

  • Aziz, Nobia
  • Ullah, Mukhtar
  • Rashid, Abdur
  • Hussain, Zubair
  • Shah, Khadim
  • Awan, Azeem
  • Khan, Muhammad
  • Ullah, Inam
  • Rehman, Atta Ur
  • SpringerLink (Online service)

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