A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Mozzillo, Enza ^a   Delvecchio, Maurizio ^b   Carella, Massimo ^b   Grandone, Elvira ^b   Palumbo, Pietro ^b   Salina, Alessandro ^c   Aloi, Concetta ^c   Buono, Pietro ^a   Izzo, Antonella ^a   D'Annunzio, Giuseppe ^c   Vecchione, Gennaro ^b   Orrico, Ada ^d   Genesio, Rita ^a   Simonelli, Francesca ^d   Franzese, Adriana ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

CISD2; Non autoimmune diabetes mellitus; Novel mutation; Optic neuropathy; Platelet aggregation; Sensorineural hearing loss; SNP array; Upper intestinal ulcers; Wolfram syndrome

Indexed keywords

DNA; CISD2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CAUCASIAN; CISD2 GENE; FEMALE; GENE; GENE DELETION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INTRAGENIC DELETION; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGREGATION; WOLFRAM SYNDROME; WOLFRAM SYNDROME TYPE 2; ASYMPTOMATIC DISEASE; DIABETES MELLITUS; DNA DETERMINATION; EYE EXAMINATION; FOLLOW UP; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE; INTESTINE ULCER; OPTIC NERVE DISEASE; PARENT; PERCEPTION DEAFNESS; PLATELET AGGREGATION DEFECT; RARE DISEASE; THROMBOCYTE DISORDER;

ADOLESCENT; AGING, PREMATURE; EXONS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; OPTIC ATROPHY; OPTIC NERVE DISEASES; PLATELET AGGREGATION; SEQUENCE DELETION;

EID: 84904535322     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-88     Document Type: Article

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