Genetic disorders and urolithiasis

被引：29

作者：

Danpure, CJ

机构：

[1] UCL, MRC, Mol Cell Biol Lab, London WC1E 6BT, England

[2] UCL, Dept Biol, London WC1E 6BT, England

来源：

UROLOGIC CLINICS OF NORTH AMERICA | 2000年 / 27卷 / 02期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/S0094-0143(05)70258-5

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which urolithiasis contributes to the disease pathology at least to some extent. There is wide clinical, biochemical, and genetic heterogeneity in many of these conditions.

引用

收藏

页码：287 / +

页数：14

相关论文

共 106 条

[61] LOCALIZATION OF LOCI FOR HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE AND GLUCOSE-6-PHOSPHATE-DEHYDROGENASE AND BIOCHEMICAL-EVIDENCE OF NON-RANDOM X-CHROMOSOME EXPRESSION FROM STUDIES OF A HUMAN X-AUTOSOME TRANSLOCATION [J].

PAI, GS ;

SPRENKLE, JA ;

DO, TT ;

MARENI, CE ;

MIGEON, BR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (05) :2810-2813

[62] FINE-STRUCTURE OF THE HUMAN HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE [J].

PATEL, PI ;

FRAMSON, PE ;

CASKEY, CT ;

CHINAULT, AC .

MOLECULAR AND CELLULAR BIOLOGY, 1986, 6 (02) :393-403

[63] DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ASSOCIATED WITH A MICRODELETION INVOLVING DXS255 AND MAPS TO XP11.22 [J].

POOK, MA ;

WRONG, O ;

WOODING, C ;

NORDEN, AGW ;

FEEST, TG ;

THAKKER, RV .

HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2129-2134

[64]

Pras E, 1998, AM J MED GENET, V80, P173, DOI 10.1002/(SICI)1096-8628(19981102)80:2<173::AID-AJMG16>3.3.CO

[65]

2-J

[66]

PRAS E, 1995, AM J HUM GENET, V56, P1297

[67] LOCALIZATION OF A GENE CAUSING CYSTINURIA TO CHROMOSOME 2P [J].

PRAS, E ;

ARBER, N ;

AKSENTIJEVICH, I ;

KATZ, G ;

SCHAPIRO, JM ;

PROSEN, L ;

GRUBERG, L ;

HAREL, D ;

LIBERMAN, U ;

WEISSENBACH, T ;

PRAS, M ;

KASTNER, DL .

NATURE GENETICS, 1994, 6 (04) :415-419

[68] CHARACTERIZATION AND CHROMOSOMAL MAPPING OF A GENOMIC CLONE ENCODING HUMAN ALANINE - GLYOXYLATE AMINOTRANSFERASE [J].

PURDUE, PE ;

LUMB, MJ ;

FOX, M ;

GRIFFO, G ;

HAMONBENAIS, C ;

POVEY, S ;

DANPURE, CJ .

GENOMICS, 1991, 10 (01) :34-42

[69] IDENTIFICATION OF MUTATIONS ASSOCIATED WITH PEROXISOME-TO-MITOCHONDRION MISTARGETING OF ALANINE GLYOXYLATE AMINOTRANSFERASE IN PRIMARY HYPEROXALURIA TYPE-1 [J].

PURDUE, PE ;

TAKADA, Y ;

DANPURE, CJ .

JOURNAL OF CELL BIOLOGY, 1990, 111 (06) :2341-2351

[70] CLONING OF 2 DISTINCT COPIES OF HUMAN PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE CDNA [J].

ROESSLER, BJ ;

BELL, G ;

HEIDLER, S ;

SEINO, S ;

BECKER, M ;

PALELLA, TD .

NUCLEIC ACIDS RESEARCH, 1990, 18 (01) :193-193

← 2 3 4 5 6 7 8 9 10 11 →