Fine mapping of the human SCIDX1 locus at Xq12-13.1.
Previous linkage analysis of families with X-linked severe combined immunodeficiency (SCIDX1) mapped this locus to a large region encompassing about 10 to 20 cM at Xq12-21. We have analyzed in SCIDX1 families the segregation of 7 highly polymorphic microsatellites repeats localized to this region, i...
Үндсэн зохиолчид: | Markiewicz, S, DiSanto, J, Chelly, J, Fairweather, N, Le Marec, B, Griscelli, C, Graeber, M, Müller, U, Fischer, A, Monaco, A |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
1993
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.
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DELINEATION OF THE X-CHROMOSOMAL DYSTONIA-PARKINSONISM (XDP) SYNDROME LOCUS, DYT3, WITHIN YAC AND COSMID CONTIGS OF XQ13.1 AND ISOLATION OF CANDIDATE GENES
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CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
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T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
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Хэвлэсэн: (2017-07-01)