A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness-Reference-Cited by-同舟云学术

A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

Published:1996-10 Issue:2 Volume:14 Page:177-180
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Jin Hong,May Melanie,Tranebjærg Lisbeth,Kendall Elaine,Fontán Gumersindo,Jackson John,Subramony S.H.,Arena Fernando,Lubs Herbert,Smith Stephanie,Stevenson Roger,Schwartz Charles,Vetrie David

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1096-177.pdf

Reference24 articles.

1. Mohr, J. & Magerøy, K. Sex-linked deafness of a possible new type. Acta. Genet. Stat. Med. (Basel) 10, 54–62 (1960).

2. Tranebjasrg, L. et. al. A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J. Med. Genet. 32, 257–263 (1995).

3. Vetrie, D. et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361, 226–233 (1993).

4. Tsukada, S. et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinaemia. Cell 72, 279–290 (1993).

5. Vihinen, M. et al. BTKbase, mutation database for X-linked agammaglobulinaemia (XLA). Nucl. Acids. Res. 24, 160–165 (1996).

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