Genotype-phenotype relationship of Niemann-Pick disease type C: A possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts [4]

Journal of Medical Genetics

Volumn 37, Issue 9, 2000, Pages 707-711

  Yamamoto, T ^a   Ninomiya, H ^a   Matsumoto, M ^a   Ohta, Y ^a   Nanba, E ^a   Tsutsumi, Y ^a   Yamakawa, K ^a   Millat, G ^a   Vanier, M T ^a   Pentchev, P G ^a   Ohno, K ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN;

ADOLESCENT; ADULT; ALLELE; AUTOSOMAL RECESSIVE DISORDER; CELL ISOLATION; CELL LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INTRON; LETTER; MALE; MISSENSE MUTATION; MUTAGENESIS; NIEMANN PICK DISEASE; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST; STRUCTURE ACTIVITY RELATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; GENOTYPE; HUMAN; INFANT; MALE; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE; POLYMORPHISM (GENETICS); POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SKIN; SUPPORT, NON-U.S. GOV'T;

EID: 0033832873     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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