A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease

Journal of Human Genetics

Volumn 49, Issue 4, 2004, Pages 220-222

  LaMarca, Mary E ^a,b   Tayebi, Mona Goldstein Nahid ^a   Arcos Burgos, Mauricio ^a   Martin, Brian M ^b   Sidransky, Ellen ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Gaucher disease; Genotype phenotype correlation; Glucocerebrosidase; Haplotype Metaxin; Polymorphism

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; CHROMOSOME 1Q; CONTROLLED STUDY; DNA POLYMORPHISM; GAUCHER DISEASE; GBA GENE; GBA PSEUDOGENE; GENE; GENE LOCATION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; METAXIN 1 GENE;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 1; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ETHNIC GROUPS; GAUCHER DISEASE; HUMANS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 2442688292     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0134-7     Document Type: Article

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