Twenty-five novel mutations including duplications in the ATP7A gene-Reference-Cited by-同舟云学术

Twenty-five novel mutations including duplications in the ATP7A gene

Published:2011-02-07 Issue:3 Volume:79 Page:243-253
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Moizard M-P,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01461.x/fullpdf

Reference44 articles.

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2. Incidence of Menkes disease;Tønnesen;Hum Genet,1991

3. Menkes disease;Tümer;Eur J Hum Genet,2010

4. Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy: a new hereditary syndrome;Lazoff;Birth Defects,1975

5. CPx-type ATPases: a class of P-type ATPases that pump heavy metals;Solioz;Trends Biochem Sci,1996

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3. ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene;Computational and Structural Biotechnology Journal;2020

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