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 m...

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Veröffentlicht in:	Osteoporosis international 2021-12, Vol.32 (12), p.2461-2472
Hauptverfasser:	Masi, L., Marini, F., Franceschelli, F., Leoncini, G., Cianferotti, L., Cioppi, F., Giusti, F., Marcucci, G., Gronchi, G., Brandi, M. L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Adults Alkaline phosphatase Alkaline Phosphatase - genetics Alleles Bone diseases Endocrinology Esters Fractures Gene frequency Gene polymorphism Genetic analysis Genetic diversity Humans Hypophosphatasia Hypophosphatasia - genetics Medical diagnosis Medicine Medicine & Public Health Metatarsus Mutation Nucleotide sequence Original Original Article Orthopedics Patients Peripheral blood pH effects Phosphatase Population studies Pyridoxal Phosphate Reabsorption Rheumatology Serum levels Vitamin B6
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