Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
About this item
Full title
Author / Creator
Ben-Ali, Meriem , Kechout, Nadia , Mekki, Najla , Yang, Jing , Chan, Koon Wing , Barakat, Abdelhamid , Aadam, Zahra , Gamara, Jouda , Gargouri, Lamia , Largueche, Beya , BelHadj-Hmida, Nabil , Nedri, Amel , Ameur, Houcine Ben , Mellouli, Fethi , Boukari, Rachida , Bejaoui, Mohamed , Bousfiha, Aziz , Ben-Mustapha, Imen , Lau, Yu-Lung and Barbouche, Mohamed-Ridha
Publisher
New York: Springer US
Journal title
Language
English
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Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent
BTK
gene mutations. In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome s...
Alternative Titles
Full title
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
Authors, Artists and Contributors
Author / Creator
Kechout, Nadia
Mekki, Najla
Yang, Jing
Chan, Koon Wing
Barakat, Abdelhamid
Aadam, Zahra
Gamara, Jouda
Gargouri, Lamia
Largueche, Beya
BelHadj-Hmida, Nabil
Nedri, Amel
Ameur, Houcine Ben
Mellouli, Fethi
Boukari, Rachida
Bejaoui, Mohamed
Bousfiha, Aziz
Ben-Mustapha, Imen
Lau, Yu-Lung
Barbouche, Mohamed-Ridha
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_pasteur_03561498v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_pasteur_03561498v1
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-019-00706-4
