Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations

Human Mutation

Volumn 15, Issue 3, 2000, Pages 254-260

  Hennermann, Julia B ^a   Vetter, Barbara ^a   Wolf, Claudia ^b   Windt, Elke ^a   Bührdel, Peter ^b   Seidel, Jörg ^c   Mönch, Eberhard ^a   Kulozik, Andreas E ^a,d  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Eastern Germany; Hyperphenylalaninemia; PAH; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

ARTICLE; GENE DELETION; GENE MUTATION; GENOTYPE; GERMANY; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENYLKETONURIA; PREVALENCE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERMANY; HUMANS; MALE; MUTATION; PHENYLALANINE; PHENYLKETONURIAS; POINT MUTATION; SEQUENCE DELETION;

EID: 0034050873     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W     Document Type: Article

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