Genetic analysis of the first four patients with β-ureidopropionase deficiency

Nucleosides, Nucleotides and Nucleic Acids

Volumn 25, Issue 9-11, 2006, Pages 1093-1098

  Van Kuilenburg, A B P ^a   Meinsma, R ^a   Assman, B ^b   Hoffman, G F ^c   Voit, T ^d   Ribes, A ^e   Lorente, I ^f   Busch, R ^g   Mayatepek, E ^b   Abeling, N G G M ^a   Wevers, R A ^h   Rutsch, F ^g   Van Gennip, A H ⁱ  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e HOSPITAL CLÍNIC   (Spain)

^f HOSPITAL DE SABADELL   (Spain)

^g KLINIKUM DORTMUND   (Germany)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Alanine synthase; Ureidopropionase; Pyrimidines; UPB1

Indexed keywords

ALANINE; COMPLEMENTARY DNA;

AMINO ACID SEQUENCE; ARTICLE; BETA UREIDOPROPIONASE DEFICIENCY; BETA URIEDOPROPIONASE GENE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

AMIDOHYDROLASES; AMINO ACID SEQUENCE; ANIMALS; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; HUMANS; LEUKOCYTES, MONONUCLEAR; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EUKARYOTA;

EID: 33750439491     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770600956870     Document Type: Article

References (7)

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