A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

Details

Serval ID
serval:BIB_3BC6179470F4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Journal
Clinical Genetics
Author(s)
Nikopoulos K., Butt G.U., Farinelli P., Mudassar M., Domènech-Estévez E., Samara C., Kausar M., Masroor I., Chrast R., Rivolta C., Siddiqi S.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
89
Number
4
Pages
510-511
Language
english
Abstract
Bibliomics (AP) - Changement de typage - Lettre changée en étude de cas
Pubmed
Web of science
Create date
12/12/2015 11:25
Last modification date
20/08/2019 13:31
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