Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus

Molecular Genetics and Metabolism

Volumn 63, Issue 4, 1998, Pages 281-288

  Reissner, K ^a   Tayebi, N ^a   Stubblefield, B K ^a   Koprivica, V ^a   Blitzer, M ^b   Holleran, W ^c   Cowan, T ^b   Almashanu, S ^b   Maddalena, A ^d   Karson, E M ^e   Sidransky, E ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d GENETICS AND IVF INSTITUTE   (United States)

^e David H Kushner Division of Reproductive Genetics   (United States)

Author keywords

Ashkenazi; Carrier screening; Gaucher disease; Glucocerebrosidase activity; Hydrops fetalis; Neuronopathic; Recombinant allele

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; CASE REPORT; ENZYME ACTIVITY; EXON; FETUS HYDROPS; GAUCHER DISEASE; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; JEW; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

HYDROPS;

EID: 18144445132     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2675     Document Type: Article

References (20)

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