NEW GAUCHER DISEASE MUTATIONS IN EXON 10 - A NOVEL L444R MUTATION PRODUCES A NEW NCII SITE THE SAME AS L444P

被引：39

作者：

UCHIYAMA, A ^{[1
]}

TOMATSU, S ^{[1
]}

KONDO, N ^{[1
]}

SUZUKI, Y ^{[1
]}

SHIMOZAWA, N ^{[1
]}

FUKUDA, S ^{[1
]}

SUKEGAWA, K ^{[1
]}

TAKI, N ^{[1
]}

INAMORI, H ^{[1
]}

ORII, T ^{[1
]}

机构：

[1] MIE UNIV,SCH MED,TSU,MIE 514,JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 07期

关键词：

D O I：

10.1093/hmg/3.7.1183

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：1183 / 1184

页数：2

共 10 条

[1]

Barranger J. A., 1989, METABOLIC BASIS INHE, P1677

[2] GAUCHER DISEASE MUTATIONS IN NON-JEWISH PATIENTS [J].

BEUTLER, E ;

GELBART, T .

BRITISH JOURNAL OF HAEMATOLOGY, 1993, 85 (02) :401-405

[3] GAUCHER DISEASE - NEW MOLECULAR APPROACHES TO DIAGNOSIS AND TREATMENT [J].

BEUTLER, E .

SCIENCE, 1992, 256 (5058) :794-799

[4] GAUCHER DISEASE AS A PARADIGM OF CURRENT ISSUES REGARDING SINGLE-GENE MUTATIONS OF HUMANS [J].

BEUTLER, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (12) :5384-5390

[5] THE HUMAN GLUCOCEREBROSIDASE GENE AND PSEUDOGENE - STRUCTURE AND EVOLUTION [J].

HOROWITZ, M ;

WILDER, S ;

HOROWITZ, Z ;

REINER, O ;

GELBART, T ;

BEUTLER, E .

GENOMICS, 1989, 4 (01) :87-96

[6]

MASUNO M, 1990, HUM GENET, V84, P203

[7]

SAMBROOK J, 1989, MOL CLONING LABORTOR

[8] DNA SEQUENCING WITH CHAIN-TERMINATING INHIBITORS [J].

SANGER, F ;

NICKLEN, S ;

COULSON, AR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (12) :5463-5467

[9] A MUTATION IN THE HUMAN GLUCOCEREBROSIDASE GENE IN NEURONOPATHIC GAUCHERS-DISEASE [J].

TSUJI, S ;

CHOUDARY, PV ;

MARTIN, BM ;

STUBBLEFIELD, BK ;

MAYOR, JA ;

BARRANGER, JA ;

GINNS, EI .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (10) :570-575

[10] A GLUCOCEREBROSIDASE FUSION GENE IN GAUCHER DISEASE - IMPLICATIONS FOR THE MOLECULAR ANATOMY, PATHOGENESIS, AND DIAGNOSIS OF THIS DISORDER [J].

ZIMRAN, A ;

SORGE, J ;

GROSS, E ;

KUBITZ, M ;

WEST, C ;

BEUTLER, E .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (01) :219-222

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