Mutational analysis for biotinidase deficiency of a Greek patients cohort ascertained through expanded newborn screening

Journal of Human Genetics

Volumn 56, Issue 12, 2011, Pages 861-865

  Thodi, Georgia ^a   Molou, Elina ^a   Georgiou, Vassiliki ^a   Loukas, Yannis L ^b   Dotsikas, Yannis ^b   Biti, Sofia ^c   Papadopoulos, Konstantinos ^c   Konstantinou, Dimitris ^c   Antoniadi, Marina ^c   Doulgerakis, Emmanuel ^c  

^a Neoscreen Ltd   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c IASO   (Greece)

Author keywords

biotinidase deficiency; mutational analysis; real time assay; sequencing

Indexed keywords

BIOTINIDASE; DNA;

ARTICLE; BIOCHEMISTRY; BIOTINIDASE DEFICIENCY; BLOOD SAMPLING; CHROMOSOME ABERRATION; CONTROLLED STUDY; ENZYME ACTIVITY; FLUOROIMMUNOASSAY; GENE SEQUENCE; GENETIC CODE; GENOTYPE; GREECE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING;

ALLELES; BIOTINIDASE; BIOTINIDASE DEFICIENCY; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; GERM-LINE MUTATION; GREECE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; POLYMORPHISM, GENETIC;

EID: 84255188607     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.119     Document Type: Article

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