A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
about
Simple tandem DNA repeats and human genetic diseaseScan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.Life-threatening laryngeal oedema in a pregnant woman with hereditary angioedema.
P2860
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
description
1994 nî lūn-bûn
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1994年の論文
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1994年論文
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1994年論文
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1994年論文
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1994年論文
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1994年論文
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1994年论文
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1994年论文
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1994年论文
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name
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@ast
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@en
type
label
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@ast
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@en
prefLabel
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@ast
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
@en
P2093
P2860
P356
P1476
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene
@en
P2093
A L Sheffer
P A Gatenby
V H Donaldson
P2860
P304
P356
10.1073/PNAS.91.20.9622
P407
P577
1994-09-01T00:00:00Z