Cargando…
Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
SUMMARY: We analyzed polymorphism of the ALPL gene in patients with low serum levels of tissue-nonspecific alkaline phosphatase (TNAP). The presence of three or more of the less frequent alleles of ALPL polymorphisms was associated with significantly lower TNAP serum level and higher frequencies of...
Autores principales: | Masi, L., Marini, F., Franceschelli, F., Leoncini, G., Cianferotti, L., Cioppi, F., Giusti, F., Marcucci, G., Gronchi, G., Brandi, M. L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer London
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608776/ https://www.ncbi.nlm.nih.gov/pubmed/34097127 http://dx.doi.org/10.1007/s00198-021-05893-8 |
Ejemplares similares
-
Alkaline Phosphatase and Hypophosphatasia
por: Millán, José Luis, et al.
Publicado: (2015) -
Chronic hypoparathyroidism and treatment with teriparatide
por: Marcucci, Gemma, et al.
Publicado: (2021) -
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
por: Schmidt, Tobias, et al.
Publicado: (2021) -
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase
por: Yu, Yating, et al.
Publicado: (2023) -
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
por: Kyöstilä, Kaisa, et al.
Publicado: (2019)