ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.

Human mutation

Volumn 27, Issue 1, 2006, Pages 119-120

  Röcken, Christoph ^a   Becker, Konrad ^a   Fändrich, Marcus ^a   Schroeckh, Volker ^a   Stix, Barbara ^a   Rath, Thomas ^a   Kähne, Thilo ^a   Dierkes, Jutta ^a   Roessner, Albert ^a   Albert, Franz Werner ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; LYSOZYME;

ADULT; AMINO ACID SEQUENCE; AMYLOIDOSIS; ARTICLE; CHEMISTRY; COLON; DUODENUM; ENZYMOLOGY; EXON; GENETICS; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN SECONDARY STRUCTURE; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; AMYLOID; AMYLOIDOSIS; BLOTTING, WESTERN; COLON; DNA MUTATIONAL ANALYSIS; DUODENUM; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR SEQUENCE DATA; MURAMIDASE; PROTEIN STRUCTURE, SECONDARY;

EID: 34548058571     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9393     Document Type: Article

References (0)