Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: A first family outside Europe

Clinical Chemistry and Laboratory Medicine

Volumn 44, Issue 9, 2006, Pages 1088-1089

  Semmler, Alexander ^a   Stein, Robert W ^b   Caplan, Luis ^c   Danilov, Sergei M ^d   Klockgether, Thomas ^a   Linnebank, Michael ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b Penobscot Bay Med Center   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

Angiotensin converting enzyme (ACE); Dominant gene; Mutation

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; ENZYME BLOOD LEVEL; EUROPE; HUMAN; PRIORITY JOURNAL;

CYTOSINE; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOMA; HUMANS; LEUCINE; MALE; PEPTIDYL-DIPEPTIDASE A; POINT MUTATION; PROLINE; THYMINE;

EID: 33748525907     PISSN: 14346621     EISSN: 14346621     Source Type: Journal    
DOI: 10.1515/CCLM.2006.200     Document Type: Article

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