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Article

Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.

The Journal of clinical endocrinology and metabolism - 1 Jun 2018

Dahir Kathryn M, Tilden Daniel R, Warner Jeremy L, Bastarache Lisa, Smith Derek K, Gifford Aliya, Ramirez Andrea H, Simmons Jill S, Black Margo M, Newman John H, Denny Josh C

Abstract excerpt

Context: Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or dental disease have undiagnosed HPP, caused by ALPL variants. Objective: Our objective was to discover the prevalence of these gene variants in the Vanderbilt University DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29659871
DOI: 10.1210/jc.2017-02676
PMCID: PMC6456921

Genes

ALPL

Provenance

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Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.PMID 29659871Read ↗

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