Clinical utility gene card for: Cystinosis

European Journal of Human Genetics

Volumn 22, Issue 5, 2014, Pages 713-

  Levtchenko, Elena ^a   Van Den Heuvel, Lambertus ^a,b   Emma, Francesco ^c   Antignac, Corinne ^d,e  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d IMAGINE INSTITUTE   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17; CLINICAL GENETICS; COST EFFECTIVENESS ANALYSIS; CYSTINOSIS; EXON SKIPPING; FAMILY HISTORY; FOUNDER EFFECT; GENE DELETION; GENETIC RISK; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INDEL MUTATION; LIFESTYLE; MICROSATELLITE MARKER; MISSENSE MUTATION; NONSENSE MUTATION; PENTOSE PHOSPHATE CYCLE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; RISK ASSESSMENT; SENSORY NERVE CELL; TANDEM MASS SPECTROMETRY; DIFFERENTIAL DIAGNOSIS; GENETICS; INCIDENCE; MUTATION; NUCLEOTIDE SEQUENCE; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

AMINO ACID TRANSPORTER; CTNS PROTEIN, HUMAN;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CYSTINOSIS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; INCIDENCE; MUTATION; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84898828501     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.204     Document Type: Article

References (23)

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