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Article

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases - 1 Jun 2012

Gruber Barry L, Couto Ana Rita, Armas Jácome Bruges, Brown Matthew A, Finzel Kathleen, Terkeltaub Robert A

Abstract excerpt

This report describes a 32-year-old woman presenting since childhood with progressive calcium pyrophosphate disease (CPPD), characterized by severe arthropathy and chondrocalcinosis involving multiple peripheral joints and intervertebral disks. Because ANKH mutations have been previously described in familial CPPD, the proband's DNA was assessed at this locus by direct sequencing of promoter and coding regions...

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Source

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Identifiers

PMID: 22647861
DOI: 10.1097/RHU.0b013e3182582c3d
PMCID: PMC4362680

Genes

ANKH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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