A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease

Chinese Medical Journal

Volumn 125, Issue 8, 2012, Pages 1511-1512

  Hua, Rong ^a   Wu, Hui ^a   Cui, Zhe ^a   Chen, Jin Xian ^a   Wang, Zheng ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Hepatosplenomegaly; Lysosomal acid sphingomyelinase; Sphingomyelin phosphodiesterase 1 gene; Splenectomy; Type B Niemann Pick disease

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ANEMIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHINESE; EXON; FEMALE; GENE; HEPATOSPLENOMEGALY; HISTIOCYTE; HUMAN; HUMAN TISSUE; HYPERSPLENISM; LEUKOPENIA; LIVER BIOPSY; MISSENSE MUTATION; NIEMANN PICK DISEASE; POLYMERASE CHAIN REACTION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPHINGOMYELIN PHOSPHODIESTERASE 1 GENE; SPLENECTOMY; THROMBOCYTOPENIA;

FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; NIEMANN-PICK DISEASE, TYPE B; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84860481165     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2012.08.027     Document Type: Article

References (7)

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