An Analysis of ALPL Gene Variants in Patients With Hypophosphatasia From the Global Hypophosphatasia Registry
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Co-Author - Priya Kishnani, MD; Co-Author - Kathryn M. Dahir, MD; Co-Author - Gabriel Á. Martos-Moreno, MD, PhD; Co-Author - Agnès Linglart, MD, PhD; Co-Author - Anna Petryk, MD; Presenting Author - William R. Mowrey, PhD; Co-Author - Shona Fang, ScD; Co-Author - Cheryl Rockman-Greenberg, MD, CM; Co-Author - Keiichi Ozono, MD; Co-Author - Wolfgang Högler, MD; Co-Author - Lothar Seefried, MD;
Meta Tag
Biochemical genetics
Epigenetics
Genotype-Phenotype Correlations
Identification of Disease Genes
Population Genetics
Co-Author Priya Kishnani, MD
Co-Author Kathryn M. Dahir, MD
Co-Author Gabriel Á. Martos-Moreno, MD, PhD
Co-Author Agnès Linglart, MD, PhD
Co-Author Anna Petryk, MD
Co-Author Shona Fang, ScD
Co-Author Cheryl Rockman-Greenberg, MD, CM
Co-Author Keiichi Ozono, MD
Co-Author Wolfgang Högler, MD
Co-Author Lothar Seefried, MD
Presenting Author William R. Mowrey, PhD
Keywords
ALPL gene variants
hypophosphatasia
Global HPP Registry
metabolic disorder
alkaline phosphatase activity
pediatric-onset HPP
pathogenicity
missense variants
frameshift variants
unique and novel variants

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