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Paper Details

Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (<i>ALPL</i>).
J Endocr Soc
3
2020
ALPL, ALPL gene, AlkP, D294A, HPP, Hypophosphatasia, Hypophosphatasia Gene, bone disease, musculoskeletal and/or dental disease, p, p., p.D294A, p.D294A variant, p.T273M, p.T273M variant, regulatory regions, serum alkaline phosphatase
Author NameAffiliation
Jens MeilerCenter for Structural Biology, Vanderbilt University Medical Center Nashville
Jens MeilerVanderbilt University Medical Center
Jens MeilerVanderbilt University Medical Center
John A CapraCenter for Structural Biology, Vanderbilt University Medical Center Nashville
John A CapraVanderbilt University Medical Center
John A CapraVanderbilt University Medical Center
John A CapraCenter for Structural Biology, Vanderbilt University Medical Center Nashville
John A CapraVanderbilt University Medical Center
John A CapraVanderbilt University Medical Center
Andrea H RamirezVanderbilt University Medical Center
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Release 1.2