IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (1801DELAG) IN THE ALD GENE

被引：30

作者：

BARCELO, A

GIROS, M

SARDE, CO

MARTINEZBERMEJO, A

MANDEL, JL

PAMPOLS, T

ESTIVILL, X

机构：

[1] INST BIOQUIM CLIN,E-08290 CERDANYOLA,SPAIN

[2] FAC MED STRASBOURG,INST CHIM BIOL,F-67085 STRASBOURG,FRANCE

[3] HOSP INFANTIL LA PAZ,DEPT NEUROPEDIAT,E-28046 MADRID,SPAIN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 10期

关键词：

D O I：

10.1093/hmg/3.10.1889

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：1889 / 1890

页数：2

共 8 条

[1]

FANEN P, 1994, IN PRESS CLIN INVEST

[2] MUTATIONS IN THE 70K PEROXISOMAL MEMBRANE-PROTEIN GENE IN ZELLWEGER SYNDROME [J].

GARTNER, J ;

MOSER, H ;

VALLE, D .

NATURE GENETICS, 1992, 1 (01) :16-23

[3]

KAMIJO K, 1990, J BIOL CHEM, V265, P4534

[4]

MOSER HW, 1989, METABOLIC BASIS INHE, P1511

[5] PUTATIVE X-LINKED ADRENOLEUKODYSTROPHY GENE SHARES UNEXPECTED HOMOLOGY WITH ABC TRANSPORTERS [J].

MOSSER, J ;

DOUAR, AM ;

SARDE, CO ;

KIOSCHIS, P ;

FEIL, R ;

MOSER, H ;

POUSTKA, AM ;

MANDEL, JL ;

AUBOURG, P .

NATURE, 1993, 361 (6414) :726-730

[6] THE GENE RESPONSIBLE FOR ADRENOLEUKODYSTROPHY ENCODES A PEROXISOMAL MEMBRANE-PROTEIN [J].

MOSSER, J ;

LUTZ, Y ;

STOECKEL, ME ;

SARDE, CO ;

KRETZ, C ;

DOUAR, AM ;

LOPEZ, J ;

AUBOURG, P ;

MANDEL, JL .

HUMAN MOLECULAR GENETICS, 1994, 3 (02) :265-271

[7]

SARDE CO, 1994, IN PRESS GENOMICS, V22

[8]

UCHIYAMA A, 1994, BIOCHEM BIOPH RES CO, V198, P623

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