A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy

被引：6

作者：

Goebel, HH

Seddigh, S

Hopf, HC

Uemichi, T

Benson, MD

McKusick, VA

机构：

[1] UNIV MAINZ,DEPT NEUROL,D-6500 MAINZ,GERMANY

[2] INDIANA UNIV,SCH MED,DEPT MED GENET & MED,INDIANAPOLIS,IN

[3] JOHNS HOPKINS UNIV,CTR GENET MED,BALTIMORE,MD

来源：

NEUROMUSCULAR DISORDERS | 1997年 / 7卷 / 04期

关键词：

D O I：

10.1016/S0960-8966(97)00446-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：229 / 230

页数：2

共 6 条

[1]

Benson MD, 1996, AM J PATHOL, V148, P351

[2]

MAHLOUDJI M, 1969, MEDICINE, V48, P1

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[4] DIRECT SEQUENCING OF THE GENE FOR MARYLAND GERMAN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY TYPE-II AND GENOTYPING BY ALLELE-SPECIFIC ENZYMATIC AMPLIFICATION [J].

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LIEPNIEKS, JJ ;

MCKUSICK, VA ;

BENSON, MD .

GENOMICS, 1989, 5 (03) :535-540

[5] HAPLOTYPE ANALYSIS OF THE TRANSTHYRETIN GENE - EVIDENCE FOR MULTIPLE RECURRENCE OF THE MET30 MUTATION IN THE CAUCASIAN POPULATION [J].

WAITS, RP ;

UEMICHI, T ;

BENSON, MD .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1995, 2 (02) :114-118

[6] A NEW TEST FOR DETECTION OF THE HIS-58 VARIANT TRANSTHYRETIN ALLELE IN HEREDITARY AMYLOIDOSIS - CREATION OF DIAGNOSTIC RESTRICTION-ENDONUCLEASE RECOGNITION SITES BY PCR BASED MUTAGENESIS [J].

ZELDENRUST, SR ;

BENSON, MD .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1994, 1 (03) :154-159

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