CARBONIC ANHYDRASE-II DEFICIENCY IDENTIFIED AS THE PRIMARY DEFECT IN THE AUTOSOMAL RECESSIVE SYNDROME OF OSTEOPETROSIS WITH RENAL TUBULAR-ACIDOSIS AND CEREBRAL CALCIFICATION

被引：488

作者：

SLY, WS

HEWETTEMMETT, D

WHYTE, MP

YU, YSL

TASHIAN, RE

机构：

[1] WASHINGTON UNIV,SCH MED,DEPT MED,ST LOUIS,MO 63110

[2] WASHINGTON UNIV,SCH MED,DEPT GENET,ST LOUIS,MO 63110

[3] ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110

[4] JEWISH HOSP ST LOUIS,DEPT MED,ST LOUIS,MO 63110

[5] JEWISH HOSP ST LOUIS,DEPT PEDIAT,ST LOUIS,MO 63110

[6] UNIV MICHIGAN,SCH MED,DEPT HUMAN GENET,ANN ARBOR,MI 48104

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1983年 / 80卷 / 09期

关键词：

D O I：

10.1073/pnas.80.9.2752

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：2752 / 2756

页数：5

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