STUDIES OF DNA IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY AND THE DUARTE VARIANT IN GERMANY

被引：13

作者：

PODSKARBI, T

REICHARDT, J

SHIN, YS

机构：

[1] UNIV MUNICH,POLIKLIN,MUNICH,GERMANY

[2] UNIV SO CALIF,INST MED GENET,LOS ANGELES,CA

[3] UNIV MUNICH,CHILDRENS HOSP,W-8000 MUNICH,GERMANY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 01期

关键词：

D O I：

10.1007/BF00735422

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：149 / 150

页数：2

共 7 条

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ELSAS, LJ .

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[2]

LIN HC, IN PRESS HUM GENET

[3]

REICHARDT JKV, 1991, AM J HUM GENET, V49, P860

[4] MOLECULAR-BASIS OF GALACTOSEMIA - MUTATIONS AND POLYMORPHISMS IN THE GENE ENCODING HUMAN GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE [J].

REICHARDT, JKV ;

WOO, SLC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (07) :2633-2637

[5]

Reichardt Juergen K. V., 1992, Human Mutation, V1, P190, DOI 10.1002/humu.1380010303

[6] AGAROSE-GEL ISOELECTROFOCUSING OF UDP-GALACTOSE PYROPHOSPHORYLASE AND GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE - DEVELOPMENTAL ASPECT OF UDP-GALACTOSE PYROPHOSPHORYLASE [J].

SHIN, YS ;

NIEDERMEIER, HP ;

ENDRES, W ;

SCHAUB, J ;

WEIDINGER, S .

CLINICA CHIMICA ACTA, 1987, 166 (01) :27-35

[7]

Shin YS, 1991, TECHNIQUES DIAGNOSTI, P267

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