A NOVEL POINT MUTATION IN THE CU/ZN SUPEROXIDE-DISMUTASE GENE IN A PATIENT WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

被引：31

作者：

IKEDA, M

ABE, K

AOKI, M

OGASAWARA, M

KAMEYA, T

WATANABE, M

SHOJI, M

HIRAI, S

ITOYAMA, Y

机构：

[1] TOHOKU UNIV, SCH MED, DEPT NEUROL, AOBA KU, SENDAI, MIYAGI 980, JAPAN

[2] GUNMA UNIV, SCH MED, DEPT NEUROL, MAEBASHI, GUMMA 371, JAPAN

[3] TOHOKU UNIV, SCH MED, DEPT BIOCHEM GENET, AOBA KU, SENDAI, MIYAGI 980, JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 03期

关键词：

D O I：

10.1093/hmg/4.3.491

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：491 / 492

页数：2

共 15 条

[1]

AOKI M, 1993, NAT GENET, V5, P102

[2] AMYOTROPHIC-LATERAL-SCLEROSIS AND STRUCTURAL DEFECTS IN CU,ZN SUPEROXIDE-DISMUTASE [J].

DENG, HX ;

HENTATI, A ;

TAINER, JA ;

IQBAL, Z ;

CAYABYAB, A ;

HUNG, WY ;

GETZOFF, ED ;

HU, P ;

HERZFELDT, B ;

ROOS, RP ;

WARNER, C ;

DENG, G ;

SORIANO, E ;

SMYTH, C ;

PARGE, HE ;

AHMED, A ;

ROSES, AD ;

HALLEWELL, RA ;

PERICAKVANCE, MA ;

SIDDIQUE, T .

SCIENCE, 1993, 261 (5124) :1047-1051

[3] IDENTIFICATION OF A NEW MISSENSE POINT MUTATION IN EXON-4 OF THE CU/ZN SUPEROXIDE-DISMUTASE (SOD-1) GENE IN A FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS [J].

ELSHAFEY, A ;

LANYON, WG ;

CONNOR, JM .

HUMAN MOLECULAR GENETICS, 1994, 3 (02) :363-364

[4] IDENTIFICATION OF 2 NOVEL MUTATIONS AND A NEW POLYMORPHISM IN THE GENE FOR CU/ZN SUPEROXIDE-DISMUTASE IN PATIENTS WITH AMYOTROPHIC-LATERAL-SCLEROSIS [J].

ESTEBAN, J ;

ROSEN, DR ;

BOWLING, AC ;

SAPP, P ;

MCKENNAYASEK, D ;

OREGAN, JP ;

BEAL, MF ;

HORVITZ, HR ;

BROWN, RH .

HUMAN MOLECULAR GENETICS, 1994, 3 (06) :997-998

[5] IDENTIFICATION OF A NOVEL SOD1 MUTATION IN AN APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS PATIENT AND THE DETECTION OF ILE113THR IN 3 OTHERS [J].

JONES, CT ;

SWINGLER, RJ ;

BROCK, DJH .

HUMAN MOLECULAR GENETICS, 1994, 3 (04) :649-650

[6] LEU(106)-]VAL (CTC-]GTC) MUTATION OF SUPEROXIDE DISMUTASE-1 GENE IN PATIENT WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS IN JAPAN [J].

KAWAMATA, J ;

HASEGAWA, H ;

SHIMOHAMA, S ;

KIMURA, J ;

TANAKA, S ;

UEDA, K .

LANCET, 1994, 343 (8911) :1501-1501

[7] ARCHITECTURE AND ANATOMY OF THE CHROMOSOMAL LOCUS IN HUMAN CHROMOSOME-21 ENCODING THE CU/ZN SUPEROXIDE-DISMUTASE [J].

LEVANON, D ;

LIEMANHURWITZ, J ;

DAFNI, N ;

WIGDERSON, M ;

SHERMAN, L ;

BERNSTEIN, Y ;

LAVERRUDICH, Z ;

DANCIGER, E ;

STEIN, O ;

GRONER, Y .

EMBO JOURNAL, 1985, 4 (01) :77-84

[8] FAMILIAL ADULT MOTOR-NEURON DISEASE - AMYOTROPHIC-LATERAL-SCLEROSIS [J].

MULDER, DW ;

KURLAND, LT ;

OFFORD, KP ;

BEARD, CM .

NEUROLOGY, 1986, 36 (04) :511-517

[9] A NOVEL MUTATION IN CU/ZN SUPEROXIDE-DISMUTASE GENE IN JAPANESE FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS [J].

NAKANO, R ;

SATO, S ;

INUZUKA, T ;

SAKIMURA, K ;

MISHINA, M ;

TAKAHASHI, H ;

IKUTA, F ;

HONMA, Y ;

FUJII, J ;

TANIGUCHI, N ;

TSUJI, S .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 200 (02) :695-703

[10]

PRAMATAROVA A, 1994, HUM MOL GENET, V3, P2061

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