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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Zara Khan Khalid, Sadaf Jafar, Sheeba Shabbir, Muhammad Zeeshan Anwar, Rabea Nasir, Attea Zaman, Momin Iqbal, Syed Irfan Raza
Format:	Artigo
Idioma:	Inglês
Publicat:	University of Faisalabad 2023-08-01
Col·lecció:	Journal of University Medical & Dental College
Matèries:	Adenosine deaminase deficiency Flow-cytometery Exome sequencing
Accés en línia:	https://jumdc.com/index.php/jumdc/article/view/859
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!