Copyright
©The Author(s) 2024.
World J Diabetes. Feb 15, 2024; 15(2): 275-286
Published online Feb 15, 2024. doi: 10.4239/wjd.v15.i2.275
Published online Feb 15, 2024. doi: 10.4239/wjd.v15.i2.275
Table 1 Clinical features of patients with adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 mutation
Patient | APPL1 variant | Sex | Age of onset in yr | BMI in kg/m2 | HbA1C 4%-6% | FBG 4.4-6.1 mmol/L |
1 | c.1894G>T (p. Asp632Tyr) | Female | 13 | 14.98 | 11 | 8.25 |
2 | c.1898G>A (p. Arg633His) | Male | 21 | 36.63 | 6.9 | 8.3 |
3 | c.1595G>A (p. Arg532Gln) | Male | 13 | 20.62 | 14.2 | 11.69 |
4 | c.1926A>G (p. Ile642Met) | Male | 12 | 20.52 | 8.3 | 8.46 |
5 | c.1153-16A>T (p.?) | Male | 39 | 25.91 | 6.1 | 7.66 |
- Citation: Shi P, Tian Y, Xu F, Liu LN, Wu WH, Shi YZ, Dai AQ, Fang HY, Li KX, Xu C. Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients. World J Diabetes 2024; 15(2): 275-286
- URL: https://www.wjgnet.com/1948-9358/full/v15/i2/275.htm
- DOI: https://dx.doi.org/10.4239/wjd.v15.i2.275