Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease

Pediatric Research

Volumn 43, Issue 5, 1998, Pages 571-578

  Tayebi, Nahid ^a   Reissner, Kathryn J ^a   Lau, Elaine K ^a   Stubblefield, Barbara K ^a   Klineburgess, Angelina C ^a   Martin, Brian M ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSYLCERAMIDASE; MESSENGER RNA;

ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FETUS; FETUS DEATH; FETUS HYDROPS; GAUCHER DISEASE; GENE AMPLIFICATION; GENE DELETION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; ICHTHYOSIS; INFANT; MALE; NEWBORN; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031958536     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199805000-00003     Document Type: Article

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