Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

American Journal of Medical Genetics

Volumn 73, Issue 1, 1997, Pages 41-47

  Tayebi, Nahid ^a   Cushner, Shana R ^a   Kleijer, Wim ^b   Lau, Elaine K ^a   Damschroder Williams, Patricia J ^a   Stubblefield, Barbara K ^a   Den Hollander, Jan ^b   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Frameshift mutation; Gaucher disease; Glucocerebrosidase; Hydrops fetalis; Knock out mouse; Neuronopathic

Indexed keywords

GLUCOSYLCERAMIDASE; MESSENGER RNA;

ALLELE; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; ENZYME DEFICIENCY; FETUS; FETUS HYDROPS; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETHALITY; PHENOTYPE; PRIORITY JOURNAL;

BLOTTING, SOUTHERN; BLOTTING, WESTERN; EXONS; FEMALE; FETAL DEATH; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENE DELETION; GLUCOSYLCERAMIDASE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY;

HYDROPS;

EID: 0030671265     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S     Document Type: Article

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