Whole exome sequencing reveals a missense mutation in the ADA gene causing severe combined immune deficiency in a Pakistani family ADA gene mutation causing SCID

BACKGROUND & OBJECTIVE: Human adenosine deaminase deficiency, OMIM 102700 (ADA deficiency) is a genetic disorder which causes severe combined immunodeficiency (SCID). The enzyme adenosine deaminase is a housekeeping in nature and is involved in purine catabolism by catalyzing irreversible deaminati...

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Hlavní autoři:	Zara Khan Khalid, Sadaf Jafar, Sheeba Shabbir, Muhammad Zeeshan Anwar, Rabea Nasir, Attea Zaman, Momin Iqbal, Syed Irfan Raza
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	University of Faisalabad 2023-08-01
Edice:	Journal of University Medical & Dental College
Témata:	Adenosine deaminase deficiency Flow-cytometery Exome sequencing
On-line přístup:	https://jumdc.com/index.php/jumdc/article/view/859
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