Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
about
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28A compositional map of human chromosome band Xq28Structure and chromosomal localization of the human antidiuretic hormone receptor geneMethylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.The systematic functional characterisation of Xq28 genes prioritises candidate disease genes.Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.Refining the genetic location of the gene for X linked hydrocephalus within Xq28.X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)Further localization of X-linked hydrocephalus in the chromosomal region Xq28.Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studiesMyotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Influence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC Study.Haemophilia A: from mutation analysis to new therapies.Evidence for the organization of chromatin in megabase pair-sized loops arranged along a random walk path in the human G0/G1 interphase nucleus.Molecular and genetic analysis of the Drosophila model of fragile X syndrome.Physical and genetic mapping of the human X chromosome centromere: repression of recombination.Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.Determination of haemophilia A carrier status by mutation analysis.The identification and classification of 41 novel mutations in the factor VIII gene (F8C).Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.
P2860
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P2860
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on October 1991
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@en
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@nl
type
label
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@en
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@nl
prefLabel
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@en
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@nl
P2093
P2860
P356
P1476
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
@en
P2093
A Dietrich
G Langenstein
S T Warren
P2860
P304
P356
10.1073/PNAS.88.19.8302
P407
P577
1991-10-01T00:00:00Z