Literature DB >> 17879432

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.

K J Flintoff1, Odile Boute-Benejean.   

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Year:  2007        PMID： 17879432

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  2 in total

1.  Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:  Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2015-05-18       Impact factor: 4.878

Review 2.  A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.

Authors:  Cong Zhou; Yuanyuan Xiao; Hanbing Xie; Shanling Liu; Jing Wang
Journal:  Mol Med Rep       Date:  2020-07-31       Impact factor: 2.952
  2 in total

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