Source:http://linkedlifedata.com/resource/lhgdn/association:9058
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Two nonsense mutations in ADTB3A, C1578T (R-- > X) and G2028T (E-- > X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency.
|
| lhgdn:mesh_code |
D010981
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |