Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

被引：51

作者：

Ohmori, H

Ando, Y

Makita, Y

Onouchi, Y

Nakajima, T

Saraiva, MJM

Terazaki, H

Suhr, O

Sobue, G

Nakamura, M

Yamaizumi, M

Munar-Ques, M

Inoue, I

Uchino, M

Hata, A

机构：

[1] Chiba Univ, Grad Sch Med, Dept Publ Hlth, Chiba 2608670, Japan

[2] Kumamoto Univ, Sch Med, Dept Neurol, Kumamoto 860, Japan

[3] Kumamoto Univ, Sch Med, Dept Lab Med, Kumamoto 860, Japan

[4] Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan

[5] RIKEN, SNP Res Ctr, Lab Gastrointestinal Dis, Yokohama, Kanagawa, Japan

[6] Univ Tokyo, Inst Med Sci, Div Genet Diag, Tokyo, Japan

[7] Univ Porto, Inst Ciencias Biomed, P-4100 Oporto, Portugal

[8] Umea Univ Hosp, Dept Med, S-90185 Umea, Sweden

[9] Nagoya Univ, Grad Sch Med, Dept Neurol, Nagoya, Aichi, Japan

[10] Kumamoto Univ, Inst Mol Embryol & Genet, Kumamoto, Japan

[11] Hosp Gen Univ, Murcia, Spain

[12] Chiba Univ, Grad Sch Med, Dept Publ Hlth, Chiba, Japan

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 04期

关键词：

D O I：

10.1136/jmg.2003.014803

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：5

共 20 条

[1]

ALMEIDA MR, 1995, HUM GENET, V96, P350

[2]

ANDERSSON R, 1968, ACTA OPHTHALMOL, V46, P441

[3] Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP) [J].

Ando, Y ;

Suhr, OB .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1998, 5 (04) :288-300

[4] TRANSTHYRETIN AND FAMILIAL AMYLOIDOTIC POLYNEUROPATHY [J].

ANDO, Y ;

ARAKI, S ;

ANDO, M .

INTERNAL MEDICINE, 1993, 32 (12) :920-920

[5] A PECULIAR FORM OF PERIPHERAL NEUROPATHY - FAMILIAR ATYPICAL GENERALIZED AMYLOIDOSIS WITH SPECIAL INVOLVEMENT OF THE PERIPHERAL NERVES [J].

ANDRADE, C .

BRAIN, 1952, 75 (03) :408-427

[6] POLYNEURITIC AMYLOIDOSIS IN A JAPANESE FAMILY [J].

ARAKI, S ;

MAWATARI, S ;

OHTA, M ;

NAKAJIMA, A ;

KUROIWA, Y .

ARCHIVES OF NEUROLOGY, 1968, 18 (06) :593-&

[7] TYPE-I FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (JAPANESE TYPE) [J].

ARAKI, S .

BRAIN & DEVELOPMENT, 1984, 6 (02) :128-133

[8] FAMILIAL AMYLOIDOTIC POLYNEUROPATHY [J].

BENSON, MD .

TRENDS IN NEUROSCIENCES, 1989, 12 (03) :88-92

[9] Tabulation of transthyretin (TTR) variants as of 1/1/2000 [J].

Connors, LH ;

Richardson, AM ;

Théberge, R ;

Costello, CE .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 2000, 7 (01) :54-69

[10]

CONTINHO P, 1989, TRAVELS GENE TALE MI

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