Literature DB >> 18070203

A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.

M S Chishti1, N Kausar, M A Rafiq, M Amin, W Ahmad.   

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Year:  2007        PMID： 18070203     DOI： 10.1111/j.1365-2133.2007.08365.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Authors:  Tahir Naeem Khan; Joakim Klar; Sadia Nawaz; Muhammad Jameel; Muhammad Tariq; Naveed Altaf Malik; Shahid M Baig; Niklas Dahl
Journal:  BMC Med Genet       Date:  2012-12-13       Impact factor: 2.103

2.  Structural and molecular basis of ZNRF3/RNF43 transmembrane ubiquitin ligase inhibition by the Wnt agonist R-spondin.

Authors:  Matthias Zebisch; Yang Xu; Christos Krastev; Bryan T MacDonald; Maorong Chen; Robert J C Gilbert; Xi He; E Yvonne Jones
Journal:  Nat Commun       Date:  2013       Impact factor: 14.919
  2 in total

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