EVIDENCE OF A GENERALIZED METABOLIC DEFECT IN PATIENTS WITH HEREDITARY CHONDROCALCINOSIS - INCREASED INORGANIC PYROPHOSPHATE IN CULTURED FIBROBLASTS AND LYMPHOBLASTS

被引：49

作者：

LUST, G

FAURE, G

NETTER, P

GAUCHER, A

SEEGMILLER, JE

机构：

[1] UNIV CALIF SAN DIEGO, DEPT MED, LA JOLLA, CA 92093 USA

[2] CORNELL UNIV, JAMES A BAKER INST ANIM HLTH, ITHACA, NY 14853 USA

[3] HOP NANCY BRABOIS, RHUMATOL CLIN, F-54550 VANDOEUVRE, FRANCE

来源：

ARTHRITIS AND RHEUMATISM | 1981年 / 24卷 / 12期

关键词：

D O I：

10.1002/art.1780241210

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A gene in the heterozygous state appears responsible for a 2-fold increase in PPi content of fibroblasts and lymphoblasts cultured from patients who have dominantly inherited chondrocalcinosis. Cells from unaffected family members of this large kindred showed a PPi content in the same range as 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 PPi content.

引用

页码：1517 / 1521

页数：5

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