Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis

Journal of Inherited Metabolic Disease

Volumn 22, Issue 6, 1999, Pages 687-692

  Zschocke, J ^a,b   Quak, E ^a   Knauer, A ^a   Fritz, B ^a   Aslan, M ^a   Hoffmann, G F ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b University Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CASE REPORT; DISEASE SEVERITY; EXON; FATHER; GENE DELETION; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; MARKER GENE; MISSENSE MUTATION; NEWBORN; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; RECESSIVE GENE;

DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION, MISSENSE; NEONATAL SCREENING; PATERNITY; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 0032802203     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005527731397     Document Type: Article

References (7)

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