Identification of novel mutations in the NPC1 gene in German patients with Niemann - Pick C disease

Journal of Inherited Metabolic Disease

Volumn 25, Issue 5, 2002, Pages 385-389

  Kaminski, W E ^a   Klunemann H H ^a   Ibach, B ^a   Aslanidis, C ^a   Klein, H E ^a   Schmitz, G ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CHOLESTEROL; NPC1 PROTEIN; PERMEASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE TRANSMISSION; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; GERMANY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PHENOTYPIC VARIATION; SYMPTOMATOLOGY; WHITE MATTER;

ADOLESCENT; ADULT; FEMALE; GERMANY; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NIEMANN-PICK DISEASES;

EID: 0036745795     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020151801060     Document Type: Article

References (11)

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