A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients

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Serval ID
serval:BIB_6E39D881387F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients
Journal
Archives of Medical Science
Author(s)
Bdier Amnah Yousuf, Al-Qahtani Faten Abdullah, Kumar Verma Prashant, Alshoaibi Naeem Abdulmoneem, Mohammed Alrayes Nuha, Shaik Noor Ahmad, Foo Roger Sik Yin, Bhuiyan Zahurul Alam, Al-Aama Jumana Y.
ISSN
1734-1922
1896-9151
Publication state
In Press
Language
english
OAI-PMH
oai:serval.unil.ch:BIB_6E39D881387F
DOI
10.5114/aoms.2020.100635
Open Access
Yes
Create date
27/09/2021 12:48
Last modification date
12/11/2024 7:04
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