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

Erstveröffentlichung
2020
Metadata only
Search for full text
Wissenschaftlicher Artikel


Authors
Khan, Sher Alam
Khan, Muhammad Adnan
Muhammad, Nazif
Bashir, Hina
Khan, Niamat
et al.
Institutions
UKU. Institut für Humangenetik
UKU. Klinik für Neurologie
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
Funding information
Alexander von Humboldt-Stiftung / Georg Forster-Forschungsstipendium
Keywords
Amelogenesis imperfecta; Exome sequencing; Non-syndromic; Nonsense variant; ACID-PHOSPHATASE; MUTATIONS; EXCHANGER; DELETION; EXPRESSION; LAMB3; DEFECTS; MATRIX; ACPT
Dewey Decimal Group
DDC 570 / Life sciences
Metadata
Show full item record