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DETECTION OF HETEROZYGOUS CARRIERS OF LESCH-NYHAN SYNDROME BY ELECTROPHORESIS OF HAIR ROOT LYSATES
被引:40
作者
:
FRANCKE, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
FRANCKE, U
[
1
]
BAKAY, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
BAKAY, B
[
1
]
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
NYHAN, WL
[
1
]
机构
:
[1]
UNIV CALIF, SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92037 USA
来源
:
JOURNAL OF PEDIATRICS
|
1973年
/ 82卷
/ 03期
关键词
:
D O I
:
10.1016/S0022-3476(73)80123-4
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:472 / 478
页数:7
相关论文
共 18 条
[11]
KELLEY WN, 1971, J BIOL CHEM, V246, P2953
[12]
FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION
[J].
LESCH, M
论文数:
0
引用数:
0
h-index:
0
LESCH, M
;
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
.
AMERICAN JOURNAL OF MEDICINE,
1964,
36
(04)
:561
-&
[13]
X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - DETECTION OF HETEROZYGOTES BY SELECTIVE MEDIUM
[J].
MIGEON, BR
论文数:
0
引用数:
0
h-index:
0
MIGEON, BR
.
BIOCHEMICAL GENETICS,
1970,
4
(03)
:377
-&
[14]
X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - HETEROZYGOTE HAS 2 CLONAL POPULATIONS
[J].
MIGEON, BR
论文数:
0
引用数:
0
h-index:
0
MIGEON, BR
;
DERKALOU.VM
论文数:
0
引用数:
0
h-index:
0
DERKALOU.VM
;
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
;
YOUNG, WJ
论文数:
0
引用数:
0
h-index:
0
YOUNG, WJ
;
CHILDS, B
论文数:
0
引用数:
0
h-index:
0
CHILDS, B
.
SCIENCE,
1968,
160
(3826)
:425
-&
[15]
HEMIZYGOUS EXPRESSION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN ERYTHROCYTES OF HETEROZYGOTES FOR LESCH-NYHAN SYNDROME
[J].
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
;
BAKAY, B
论文数:
0
引用数:
0
h-index:
0
BAKAY, B
;
CONNOR, JD
论文数:
0
引用数:
0
h-index:
0
CONNOR, JD
;
MARKS, JF
论文数:
0
引用数:
0
h-index:
0
MARKS, JF
;
KEELE, DK
论文数:
0
引用数:
0
h-index:
0
KEELE, DK
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1970,
65
(01)
:214
-&
[16]
SINGLE-ALLELE EXPRESSION AT AN X-LINKED HYPERURICEMIA LOCUS IN HETEROZYGOUS HUMAN CELLS
[J].
SALZMANN, J
论文数:
0
引用数:
0
h-index:
0
SALZMANN, J
;
DEMARS, R
论文数:
0
引用数:
0
h-index:
0
DEMARS, R
;
BENKE, P
论文数:
0
引用数:
0
h-index:
0
BENKE, P
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1968,
60
(02)
:545
-&
[17]
ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS
[J].
SEEGMILLER, JE
论文数:
0
引用数:
0
h-index:
0
SEEGMILLER, JE
;
ROSENBLOOM, FM
论文数:
0
引用数:
0
h-index:
0
ROSENBLOOM, FM
;
KELLEY, WN
论文数:
0
引用数:
0
h-index:
0
KELLEY, WN
.
SCIENCE,
1967,
155
(3770)
:1682
-+
[18]
DETECTION OF HETEROZYGOTE IN LESCH-NYHAN DISEASE BY HAIR-ROOT ANALYSIS
[J].
SILVERS, DN
论文数:
0
引用数:
0
h-index:
0
SILVERS, DN
;
DANCIS, J
论文数:
0
引用数:
0
h-index:
0
DANCIS, J
;
COX, RP
论文数:
0
引用数:
0
h-index:
0
COX, RP
;
BALIS, ME
论文数:
0
引用数:
0
h-index:
0
BALIS, ME
.
NEW ENGLAND JOURNAL OF MEDICINE,
1972,
286
(08)
:390
-&
←
1
2
→
共 18 条
[11]
KELLEY WN, 1971, J BIOL CHEM, V246, P2953
[12]
FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION
[J].
LESCH, M
论文数:
0
引用数:
0
h-index:
0
LESCH, M
;
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
.
AMERICAN JOURNAL OF MEDICINE,
1964,
36
(04)
:561
-&
[13]
X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - DETECTION OF HETEROZYGOTES BY SELECTIVE MEDIUM
[J].
MIGEON, BR
论文数:
0
引用数:
0
h-index:
0
MIGEON, BR
.
BIOCHEMICAL GENETICS,
1970,
4
(03)
:377
-&
[14]
X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - HETEROZYGOTE HAS 2 CLONAL POPULATIONS
[J].
MIGEON, BR
论文数:
0
引用数:
0
h-index:
0
MIGEON, BR
;
DERKALOU.VM
论文数:
0
引用数:
0
h-index:
0
DERKALOU.VM
;
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
;
YOUNG, WJ
论文数:
0
引用数:
0
h-index:
0
YOUNG, WJ
;
CHILDS, B
论文数:
0
引用数:
0
h-index:
0
CHILDS, B
.
SCIENCE,
1968,
160
(3826)
:425
-&
[15]
HEMIZYGOUS EXPRESSION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN ERYTHROCYTES OF HETEROZYGOTES FOR LESCH-NYHAN SYNDROME
[J].
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
NYHAN, WL
;
BAKAY, B
论文数:
0
引用数:
0
h-index:
0
BAKAY, B
;
CONNOR, JD
论文数:
0
引用数:
0
h-index:
0
CONNOR, JD
;
MARKS, JF
论文数:
0
引用数:
0
h-index:
0
MARKS, JF
;
KEELE, DK
论文数:
0
引用数:
0
h-index:
0
KEELE, DK
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1970,
65
(01)
:214
-&
[16]
SINGLE-ALLELE EXPRESSION AT AN X-LINKED HYPERURICEMIA LOCUS IN HETEROZYGOUS HUMAN CELLS
[J].
SALZMANN, J
论文数:
0
引用数:
0
h-index:
0
SALZMANN, J
;
DEMARS, R
论文数:
0
引用数:
0
h-index:
0
DEMARS, R
;
BENKE, P
论文数:
0
引用数:
0
h-index:
0
BENKE, P
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1968,
60
(02)
:545
-&
[17]
ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS
[J].
SEEGMILLER, JE
论文数:
0
引用数:
0
h-index:
0
SEEGMILLER, JE
;
ROSENBLOOM, FM
论文数:
0
引用数:
0
h-index:
0
ROSENBLOOM, FM
;
KELLEY, WN
论文数:
0
引用数:
0
h-index:
0
KELLEY, WN
.
SCIENCE,
1967,
155
(3770)
:1682
-+
[18]
DETECTION OF HETEROZYGOTE IN LESCH-NYHAN DISEASE BY HAIR-ROOT ANALYSIS
[J].
SILVERS, DN
论文数:
0
引用数:
0
h-index:
0
SILVERS, DN
;
DANCIS, J
论文数:
0
引用数:
0
h-index:
0
DANCIS, J
;
COX, RP
论文数:
0
引用数:
0
h-index:
0
COX, RP
;
BALIS, ME
论文数:
0
引用数:
0
h-index:
0
BALIS, ME
.
NEW ENGLAND JOURNAL OF MEDICINE,
1972,
286
(08)
:390
-&
←
1
2
→