✦ LIBER ✦

Evidence of a Generalized Metabolic Defect in Patients with Hereditary Chondrocalcinosis

✍ Scribed by G. Lust; G. Faure; P. Netter; A. Gaucher; J. E. Seegmiller

Publisher: John Wiley and Sons
Year: 1981
Tongue: English
Weight: 447 KB
Volume: 24
Category: Article
ISSN: 0004-3591
DOI: 10.1002/art.1780241210

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A gene in the heterozygous state appears responsible for a 2‐fold increase in pyrophosphate content of both fibroblasts and lymphoblasts cultured from patients who have dominantly inherited chondrocalcinosis. Cells from unaffected family members of this large kindred showed a pyrophosphate content in the same range as was found in unaffected, unrelated controls. Similar cells from individuals homozygous for the gene would be useful in delineating the precise biochemical abnormality responsible for the increased pyrophosphate content.

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