A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Erstveröffentlichung

2020

Authors

Khan, Sher Alam

Khan, Muhammad Adnan

Muhammad, Nazif

Bashir, Hina

Khan, Niamat

et al.

Wissenschaftlicher Artikel

Published in

BMC Medical Genetics ; 21 (2020), 1. - Art.-Nr. 97. - eISSN 1471-2350

Link to publication

https://dx.doi.org/10.1186/s12881-020-01038-6

Institutions

UKU. Institut für Humangenetik
UKU. Klinik für Neurologie

Funding information

Alexander von Humboldt-Stiftung / Georg Forster-Forschungsstipendium

Subject headings

[Free subject headings]: Amelogenesis imperfecta | Exome sequencing | Non-syndromic | Nonsense variant | ACID-PHOSPHATASE | MUTATIONS | EXCHANGER | DELETION | EXPRESSION | LAMB3 | DEFECTS | MATRIX | ACPT
[DDC subject group]: DDC 570 / Life sciences

Metadata

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