Literature DB >> 8081399

A single-base deletion mutation in a Turkish patient with fucosidosis.

H C Seo1, J Kunze, P J Willems, A H Kim, F Hanefeld, J S O'Brien.   

Abstract

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Year:  1994        PMID： 8081399     DOI： 10.1002/humu.1380030416

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  Fucosidosis: genetic and biochemical analysis of eight cases.

Authors:  H Cragg; M Williamson; E Young; J O'Brien; J Alhadeff; S Fang-Kircher; E Paschke; B Winchester
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  The molecular defect underlying canine fucosidosis.

Authors:  B J Skelly; D R Sargan; M E Herrtage; B G Winchester
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

3.  Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.

Authors:  Xinwen Zhang; Shaozhi Zhao; Hongwei Liu; Xiaoyan Wang; Xiaolei Wang; Nan Du; Hui Liu; Hongfang Duan
Journal:  J Int Med Res       Date:  2021-04       Impact factor: 1.671

Review 4.  Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Authors:  Karolina M Stepien; Elżbieta Ciara; Aleksandra Jezela-Stanek
Journal:  Genes (Basel)       Date:  2020-11-22       Impact factor: 4.096
  4 in total

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