Article
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
American journal of medical genetics. Part A - 1 Mar 2017
Tenorio Jair, Álvarez Ignacio, Riancho-Zarrabeitia Leyre, Martos-Moreno Gabriel Á, Mandrile Giorgia, de la Flor Crespo Monserrat, Sukchev Mikhail, Sherif Mostafa, Kramer Iza, Darnaude-Ortiz María T, Arias Pedro, Gordo Gema, Dapía Irene, Martinez-Villanueva Julián, Gómez Rubén, Iturzaeta José Manuel, Otaify Ghada, García-Unzueta Mayte, Rubinacci Alessandro, Riancho José A, Aglan Mona, Temtamy Samia, Hamid Mohamed Abdel, Argente Jesús, Ruiz-Pérez Víctor L, Heath Karen E, Lapunzina Pablo
Abstract excerpt
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild forms are sometimes only diagnosed in adulthood or remain...
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