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May 9, 1995Proceedings of the National Academy of SciencesOpen Access

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

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Population

12 unrelated patients with Wiskott-Aldrich syndrome (WAS) and families with a history of WAS

Design

Other

Authors

SKSau‐Ping KwanRush University Medical CenterTHTracy L. HagemannUniversity of Wisconsin–MadisonBRB E Radtke

Discussion

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Implication

Enables molecular diagnosis and carrier tracking in Wiskott-Aldrich syndrome; leaves open functional and therapeutic implications pending further study.

Structured PICO

P
Population
12 unrelated patients with Wiskott-Aldrich syndrome (WAS) and families with a history of WAS
O
Outcome
Identification of mutations in the WAS gene and characterization of a polymorphic microsatellite at the DXS6940 locus

The study confirms the identity of the Wiskott-Aldrich syndrome disease gene by characterizing mutations in affected patients and provides a polymorphic marker for tracking disease inheritance.

Cite This Study

Kwan et al. (1995) studied this question.

synapsesocial.com/papers/6a6f944884cc45bb7bdfa434https://doi.org/10.1073/pnas.92.10.4706
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome1995 · 130 citations
  2. 2T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.1993 · 192 citations
  3. 3Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.1991 · 328 citations
  4. 4T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome.1992 · 137 citations