New single nucleotide deletion in the SMPD1 gene causes Niemann pick disease type a in a child from southwest Iran: A case report

Iranian Journal of Pediatrics

Volumn 23, Issue 2, 2013, Pages 233-236

  Galehdari, Hamid ^a   Tangestani, Raheleh ^b   Ghasemian, Sepideh ^b  

^a SHAHID CHAMRAN UNIVERSITY OF AHVAZ   (Iran)

^b AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Acid sphingomyelinase 1; Mutation; Niemann pick disease; SMPD1 gene

Indexed keywords

GENOMIC DNA; GUANINE;

ARTICLE; CASE REPORT; CHERRY RED SPOT; CHILD; DEVELOPMENTAL DISORDER; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; HEPATOSPLENOMEGALY; HUMAN; IRAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SMPD1 GENE; SYMPTOM;

EID: 84874782786     PISSN: 20082142     EISSN: 20082150     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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