Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL)

CONTEXT: Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant in the ALPL gene or its regulatory regions, individual pathogenic variants are o...

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Vydáno v:J Endocr Soc
Hlavní autoři: Tilden, Daniel R, Sheehan, Jonathan H, Newman, John H, Meiler, Jens, Capra, John A, Ramirez, Andrea, Simmons, Jill, Dahir, Kathryn
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Clinical Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7417882/
https://ncbi.nlm.nih.gov/pubmed/32803091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa084
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