A G TO T MUTATION AT A SPLICE-SITE IN A CASE OF PELIZAEUS-MERZBACHER DISEASE

被引：9

作者：

STRAUTNIEKS, S ^{[1
]}

MALCOLM, S ^{[1
]}

机构：

[1] INST CHILD HLTH,MOLEC GENET UNIT,LONDON WC1N 1EH,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

关键词：

D O I：

10.1093/hmg/2.12.2191

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：2191 / 2192

页数：2

共 15 条

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[4] GENCIC S, 1989, AM J HUM GENET, V45, P435
[5] MUTATION OF THE PROTEOLIPID PROTEIN GENE PLP IN A HUMAN X CHROMOSOME-LINKED MYELIN DISORDER
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (20) : 8128 - 8131
[6] A MISSENSE MUTATION IN THE PROTEOLIPID PROTEIN GENE RESPONSIBLE FOR PELIZAEUS-MERZBACHER DISEASE IN A JAPANESE FAMILY
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[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 19 - 22
[7] NADON NL, 1990, DEVELOPMENT, V110, P529
[8] A SINGLE NUCLEOTIDE DIFFERENCE IN THE GENE FOR MYELIN PROTEOLIPID PROTEIN DEFINES THE JIMPY MUTATION IN MOUSE
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[J]. JOURNAL OF NEUROCHEMISTRY, 1987, 49 (06) : 1873 - 1877
[9] PELIZAEUS-MERZBACHER DISEASE - A VALINE TO PHENYLALANINE POINT MUTATION IN A PUTATIVE EXTRACELLULAR LOOP OF MYELIN PROTEOLIPID
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POPOT, JL
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DAUTIGNY, A
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (17) : 7562 - 7566
[10] A NEW MUTATION IN THE PROTEOLIPID PROTEIN(PLP) GENE IN A GERMAN FAMILY WITH PELIZAEUS-MERZBACHER DISEASE
PRATT, VM
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SCHINZEL, A
DLOUHY, SR
CONNEALLY, PM
HODES, ME
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (01): : 136 - 139

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