Literature DB >> 7658647

A 27-year-old woman with Alström syndrome who had liver cirrhosis.

M Awazu1, T Tanaka, K Yamazaki, S Kato, M Higuchi, N Matsuo.   

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Year:  1995        PMID： 7658647

Source DB:  PubMed          Journal:  Keio J Med        ISSN： 0022-9717


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  2 in total

1.  Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Authors:  Satoshi Katagiri; Kazutoshi Yoshitake; Masakazu Akahori; Takaaki Hayashi; Masaaki Furuno; Jo Nishino; Kazuho Ikeo; Hiroshi Tsuneoka; Takeshi Iwata
Journal:  Mol Vis       Date:  2013-11-24       Impact factor: 2.367

Review 2.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123
  2 in total

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