Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Orphanet journal of rare diseases

Volumn 8, Issue , 2013, Pages

  Zhang, Huiwen ^a   Wang, Y ^b   Gong, Zhuwen ^b   Li, Xiaoyan ^b   Qiu, Wenjuan ^b   Han, Lianshu ^b   Ye, Jun ^b   Gu, Xuefan ^b  

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

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

RNA; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ARTICLE; CHILD; CHINA; COHORT ANALYSIS; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUTATION; NIEMANN PICK DISEASE; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; FEMALE; HUMANS; INFANT; MALE; MUTATION; NIEMANN-PICK DISEASES; RNA; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84872789314     PISSN: None     EISSN: 17501172     Source Type: None    
DOI: 10.1186/1750-1172-8-15     Document Type: Article

References (0)