Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.
about
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletionMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthGenomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11Discriminating power of localized three-dimensional facial morphology.Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.William's syndrome: gene expression is related to parental origin and regional coordinate control.Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.Mutation rate in human microsatellites.
P2860
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P2860
Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.
description
1993 nî lūn-bûn
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1993年の論文
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1993年学术文章
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1993年学术文章
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name
Description of a dinucleotide ...... t of the gene to chromosome 7.
@en
Description of a dinucleotide ...... t of the gene to chromosome 7.
@nl
type
label
Description of a dinucleotide ...... t of the gene to chromosome 7.
@en
Description of a dinucleotide ...... t of the gene to chromosome 7.
@nl
prefLabel
Description of a dinucleotide ...... t of the gene to chromosome 7.
@en
Description of a dinucleotide ...... t of the gene to chromosome 7.
@nl
P2093
P2860
P1476
Description of a dinucleotide ...... t of the gene to chromosome 7.
@en
P2093
Humphries SE
King-Underwood L
P2860
P356
10.1111/J.1469-1809.1993.TB00890.X
P407
P577
1993-05-01T00:00:00Z