Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients

Brain and Development

Volumn 26, Issue 4, 2004, Pages 245-250

  Yamamoto, Toshiyuki ^a   Feng, Jian Hua ^b,c   Higaki, Katsumi ^d   Taniguchi, Miyako ^c   Nanba, Eiji ^c   Ninomiya, Haruaki ^c   Ohno, Kousaku ^c  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b ZHEJIANG UNIVERSITY   (China)

^c TOTTORI UNIVERSITY   (Japan)

^d Columbia Univ Coll Phys Surgs ^*  (United States)

Author keywords

Mutation; Niemann Pick disease type C; Northern blotting; NPC1 mRNA

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DEGENERATIVE DISEASE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; LIPIDOSIS; MALE; MISSENSE MUTATION; NIEMANN PICK DISEASE; NIEMANN PICK DISEASE TYPE C GENE; PATHOGENESIS; PRESCHOOL CHILD; SKIN FIBROBLAST;

ADOLESCENT; ADULT; AGE OF ONSET; CARRIER PROTEINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; NIEMANN-PICK DISEASES; RNA, MESSENGER; SKIN; UP-REGULATION;

EID: 2342533882     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00162-1     Document Type: Article

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