TYPE-A NIEMANN-PICK DISEASE - A FRAMESHIFT MUTATION IN THE ACID SPHINGOMYELINASE GENE (FSP330) OCCURS IN ASHKENAZI JEWISH PATIENTS

被引：35

作者：

LEVRAN, O

DESNICK, RJ

SCHUCHMAN, EH

机构：

[1] Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York

来源：

HUMAN MUTATION | 1993年 / 2卷 / 04期

关键词：

D O I：

10.1002/humu.1380020414

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：317 / 319

页数：3

共 14 条

[1] IDENTIFICATION OF THE 2ND COMMON JEWISH GAUCHER DISEASE MUTATION MAKES POSSIBLE POPULATION-BASED SCREENING FOR THE HETEROZYGOUS STATE [J].

BEUTLER, E ;

GELBART, T ;

KUHL, W ;

SORGE, J ;

WEST, C .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) :10544-10547

[2]

FERLINZ K, 1991, BIOCHEM BIOPH RES CO, V179, P1876

[3]

GOODMAN RM, 1979, GENETIC DISORDERS JE, P96

[4] NIEMANN-PICK DISEASE - A FREQUENT MISSENSE MUTATION IN THE ACID SPHINGOMYELINASE GENE OF ASHKENAZI JEWISH TYPE-A AND TYPE-B PATIENTS [J].

LEVRAN, O ;

DESNICK, RJ ;

SCHUCHMAN, EH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) :3748-3752

[5] IDENTIFICATION OF A 3' ACCEPTOR SPLICE SITE MUTATION (G2610C) IN THE ACID SPHINGOMYELINASE GENE OF PATIENTS WITH NIEMANN-PICK DISEASE [J].

LEVRAN, O ;

DESNICK, RJ ;

SCHUCHMAN, EH .

HUMAN MOLECULAR GENETICS, 1993, 2 (02) :205-206

[6] NIEMANN-PICK TYPE-B DISEASE - IDENTIFICATION OF A SINGLE CODON DELETION IN THE ACID SPHINGOMYELINASE GENE AND GENOTYPE PHENOTYPE CORRELATIONS IN TYPE-A AND TYPE-B PATIENTS [J].

LEVRAN, O ;

DESNICK, RJ ;

SCHUCHMAN, EH .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 88 (03) :806-810

[7]

LEVRAN O, 1992, BLOOD, V80, P2081

[8]

MITCHELL LG, 1989, ANAL BIOCHEM, V178, P339

[9]

NEUFELD EF, 1989, J BIOL CHEM, V264, P10927

[10] STRUCTURAL ORGANIZATION AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE GENE ENCODING HUMAN ACID SPHINGOMYELINASE (SMPD1) [J].

SCHUCHMAN, EH ;

LEVRAN, O ;

PEREIRA, LV ;

DESNICK, RJ .

GENOMICS, 1992, 12 (02) :197-205

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