Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Brown, Justin T ^a   Lahey, Cora ^a   Laosinchai Wolf, Walairat ^a   Hadd, Andrew G ^a  

^a ASURAGEN INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; DNA; GLUCOSYLCERAMIDASE; MICROSPHERE; STREPTAVIDIN;

ALLELE; AMPLICON; ARTICLE; BINDING SITE; DNA DETERMINATION; DNA FLANKING REGION; DNA HYBRIDIZATION; FLUORESCENCE; GAUCHER DISEASE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE PROBE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOTE DETECTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PSEUDOGENE; SAMPLING; SEQUENCE ANALYSIS; SEQUENCE DATABASE; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ALLELES; GAUCHER DISEASE; GENETIC TESTING; GLUCOSYLCERAMIDASE; HUMANS; JEWS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; SEQUENCE ANALYSIS, DNA;

EID: 33748348177     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-69     Document Type: Article

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