Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
about
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiencyMapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studiesThe Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.Linkage analysis of a large pedigree with hereditary sideroblastic anaemiaArginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth diseaseImmunodeficiency due to a unique protracted developmental delay in the B-cell lineageDetection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.Linkage localization of X-linked Charcot-Marie-Tooth disease.Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.Linkage mapping of a severe X-linked mental retardation syndrome.Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysisHigh-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.Autism and the X chromosome: no linkage to microsatellite loci detected using the affected sibling pair method.
P2860
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P2860
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
@en
type
label
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
@en
prefLabel
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
@en
P2093
P356
P1476
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci
@en
P2093
M H Polymeropoulos
S Ledbetter
P2860
P356
10.1093/NAR/18.13.4037
P577
1990-07-01T00:00:00Z