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

Kathryn Dahir | Zendy; Daniel R. Tilden | Zendy; Jeremy L. Warner | Zendy; Lisa Bastarache | Zendy; Derek K. Smith | Zendy; Aliya Gifford | Zendy; Andrea H. Ramirez | Zendy; Jill H. Simmons | Zendy; Margo Black | Zendy; John H. Newman | Zendy; Joshua C. Denny | Zendy

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

Author(s) -

Kathryn Dahir,

Daniel R. Tilden,

Jeremy L. Warner,

Lisa Bastarache,

Derek K. Smith,

Aliya Gifford,

Andrea H. Ramirez,

Jill H. Simmons,

Margo Black,

John H. Newman,

Joshua C. Denny

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02676

Subject(s) - hypophosphatasia , medicine , gene , genetics , biology , alkaline phosphatase , enzyme , biochemistry

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.

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