NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 10-16

  Yamamoto, Toshiyuki ^a   Nanba, Eiji ^a   Ninomiya, Haruaki ^a   Higaki, Katsumi ^a   Taniguchi, Miyako ^a   Zhang, Haidi ^a   Akaboshi, Shinjiro ^b   Watanabe, Yasuhiro ^b   Takeshima, Takao ^b   Inui, Koji ^c   Okada, Shintaro ^c   Tanaka, Akemi ^d   Sakuragawa, Norio ^e   Millat, Gilles ^f   Vanier, Marie T ^f   Morris, Jill A ^g   Pentchev, Peter G ^g   Ohno, Kousaku ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f INSERM   (France)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; JAPAN; MALE; NIEMANN PICK DISEASE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; AGE OF ONSET; ALTERNATIVE SPLICING; BLOTTING, SOUTHERN; CARRIER PROTEINS; CELL LINE; CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; JAPAN; MALE; MEMBRANE GLYCOPROTEINS; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; NIEMANN-PICK DISEASES; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0032841387     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051057     Document Type: Article

References (22)

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