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

被引：18

作者：

LEVRAN, O ^{[1
]}

DESNICK, RJ ^{[1
]}

SCHUCHMAN, EH ^{[1
]}

机构：

[1] CUNY MT SINAI SCH MED,NEW YORK,NY 10029

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 02期

关键词：

D O I：

10.1093/hmg/2.2.205

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：

[No abstract available]

引用

页码：205 / 206

页数：2

共 9 条

[1] MOLECULAR-BASIS OF ACID SPHINGOMYELINASE DEFICIENCY IN A PATIENT WITH NIEMANN-PICK DISEASE TYPE-A [J].

FERLINZ, K ;

HURWITZ, R ;

SANDHOFF, K .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 179 (03) :1187-1191

[2] 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

[3] 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

[4]

LEVRAN O, 1992, IN PRESS BLOOD

[5] 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

[6]

SCHUCHMAN EH, 1991, J BIOL CHEM, V266, P8531

[7]

SPENCE MW, 1989, METABOLIC BASIS INHE, P1655

[8]

TAKAHASHI T, 1992, J BIOL CHEM, V267, P12552

[9]

Takahashi Tsutomu, 1992, Human Mutation, V1, P70, DOI 10.1002/humu.1380010111

← 1 →