Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein al gene

Journal of Clinical Investigation

Volumn 97, Issue 12, 1996, Pages 2714-2721

  Booth, David R ^a   Tan, Si Yen ^a   Booth, Susanne E ^a   Tennent, Glenys A ^a   Hutchinson, Winston L ^a   Hsuan, J Justin ^b   Totty, Nicholas F ^b   Truong, Oanh ^b   Soutar, Anne K ^a   Hawkins, Philip N ^a   Bruguera, Miquel ^c   Caballería, Joan ^c   Solé, Manel ^c   Campistol, Josep M ^c   Pepys, Mark B ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Amyloidosis; Apolipoprotein AI; Gene; Liver; Mutation

Indexed keywords

AMYLOID; APOLIPOPROTEIN A1;

ADULT; AMINO TERMINAL SEQUENCE; AMYLOIDOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DELETION MUTANT; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIVER DISEASE; LIVER FAILURE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SEQUENCE; AMYLOIDOSIS; APOLIPOPROTEIN A-I; BASE SEQUENCE; FEMALE; HUMANS; LIVER; LIVER DISEASES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SERUM AMYLOID P-COMPONENT;

EID: 0029948966     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118725     Document Type: Article

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