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 AY, Al-Qahtani FA, Verma PK, Alshoaibi NA, Alrayes NM, Shaik NA, Foo RSY, Bhuiyan ZA, Al-Aama JY
Publication state
Submitted to the publisher
Language
english
OAI-PMH
oai:serval.unil.ch:BIB_6E39D881387F
Create date
27/09/2021 13:48
Last modification date
29/09/2021 6:42
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