Literature DB >> 8702176

Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens.

M M Vuoristo1, T Pihlajamaa, P Vandenberg, J Körkkö, D J Prockop, L Ala-Kokko.   

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Year:  1996        PMID： 8702176     DOI： 10.1111/j.1749-6632.1996.tb56304.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  3 in total

1.  Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Authors:  Imen Chakchouk; M'hamed Grati; Guney Bademci; Mariem Bensaid; Qi Ma; Amine Chakroun; Joseph Foster; Denise Yan; Duygu Duman; Oscar Diaz-Horta; Abdelmonem Ghorbel; Rahul Mittal; Amjad Farooq; Mustafa Tekin; Saber Masmoudi; Xue Zhong Liu
Journal:  Mol Genet Genomics       Date:  2015-01-30       Impact factor: 3.291

Review 2.  Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Authors:  Wenjun Xia; Fei Liu; Duan Ma
Journal:  Front Med       Date:  2016-05-03       Impact factor: 4.592

3.  A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Authors:  Sophia B Hufnagel; K Nicole Weaver; Robert B Hufnagel; Patricia I Bader; Elizabeth K Schorry; Robert J Hopkin
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.578
  3 in total

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