Riboflavin transporter 3 involvement in infantile brown-vialetto-van laere disease: Two novel mutations

Journal of Medical Genetics

Volumn 50, Issue 2, 2013, Pages 104-107

  Ciccolella, Marianna ^a   Corti, Stefania ^b   Catteruccia, Michela ^a   Petrini, Stefania ^a   Tozzi, Giulia ^a   Rizza, Teresa ^a   Carrozzo, Rosalba ^a   Nizzardo, Monica ^b   Bordoni, Andreina ^b   Ronchi, Dario ^b   D'Amico, Adele ^a   Rizzo, Cristiano ^a   Comi, Giacomo Pietro ^b   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; MEMBRANE PROTEIN; RIBOFLAVIN; RIBOFLAVIN TRANSPORTER 2; RIBOFLAVIN TRANSPORTER 3; SLC52A2 PROTEIN; SLC52A3 PROTEIN; UNCLASSIFIED DRUG;

ACUTE RESPIRATORY FAILURE; ARTICLE; ASPIRATION PNEUMONIA; BROWN VIALETTO VAN LAERE SYNDROME; CASE REPORT; CLINICAL FEATURE; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; NEUROLOGIC DISEASE; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

AMINO ACID SEQUENCE; BULBAR PALSY, PROGRESSIVE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE ALIGNMENT;

EID: 84873055299     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101204     Document Type: Article

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