Literature DB >> 8387453

Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.

J Skare1, B L Wu, S Madan, V Pulijaal, D Purtilo, D Haber, D Nelson, B Sylla, H Grierson, H Nitowsky.   

Abstract

Blot hybridization was used to find DNA sequences missing in a male who lacked two-thirds of Xq25. The probes were used to discover two additional males with deletions resulting in X-linked lymphoproliferative disease (XLP). All three deletions have a region in common, and DXS739 is within this candidate region. The new deletions were also detectable using chromosome banding, and the smallest removes only one-third of Xq25. XLP is the only consequence of the deletions.

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Year:  1993        PMID: 8387453     DOI: 10.1006/geno.1993.1169

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  3 in total

1.  Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.

Authors:  V Schuster; S Seidenspinner; H W Kreth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

2.  Molecular genetic haplotype segregation studies in three families with X-linked lymphoproliferative disease.

Authors:  V Schuster; S Seidenspinner; T Grimm; W Kress; S Zielen; M Bock; H W Kreth
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

3.  Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.

Authors:  K E Nichols; D P Harkin; S Levitz; M Krainer; K A Kolquist; C Genovese; A Bernard; M Ferguson; L Zuo; E Snyder; A J Buckler; C Wise; J Ashley; M Lovett; M B Valentine; A T Look; W Gerald; D E Housman; D A Haber
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

  3 in total

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