Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47

Clinical Genetics

Volumn 57, Issue 4, 2000, Pages 284-290

  Ferlini, A ^a,g   Obici, L ^a   Manzati, E ^a   Biadi, O ^b   Tarantino, E ^h   Conigli, P ^c   Merlini, G ^d   D'Alessandro, M ^a   Mazzaferro, V ^e   Tassinari, C A ^f   Salvi, F ^f  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b CISANELLO HOSPITAL   (Italy)

^c S ANNA HOSPITAL   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e NATIONAL CANCER INSTITUTE   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY OF FERRARA   (Italy)

^h NONE

Author keywords

Hereditary amyloidosis; Hot spot; Missense mutations; Splicing transcription; Transthyretin gene

Indexed keywords

MESSENGER RNA; PREALBUMIN;

ADULT; AMYLOIDOSIS; ARTICLE; CLINICAL ARTICLE; CODON; CONSENSUS SEQUENCE; DNA TRANSCRIPTION; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; ITALY; LIVER; LIVER TRANSPLANTATION; MALE; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; AMYLOIDOSIS; ARGININE; CODON; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREALBUMIN; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC;

EID: 0034052430     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570407.x     Document Type: Article

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