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. (Q51993296)
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scientific article published in April 1998
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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. |
scientific article published in April 1998 |
Statements
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. (English)
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Reissner K
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Tayebi N
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Stubblefield BK
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Koprivica V
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Blitzer M
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Holleran W
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Cowan T
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Almashanu S
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Maddalena A
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Karson EM
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Sidransky E
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1 April 1998
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63
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4
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281-288
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