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 deami...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Faisalabad
2023-08-01
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| Series: | Journal of University Medical & Dental College |
| Subjects: | |
| Online Access: | https://jumdc.com/index.php/jumdc/article/view/859 |