Literature DB >> 8069316

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

J Davies1, H Christomanou, B Winchester, S Malcolm.   

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Year:  1994        PMID： 8069316     DOI： 10.1093/hmg/3.4.667

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

1.  Novel trinucleotide deletion in Fabry's disease.

Authors:  M A Cariolou; M Christodoulides; P Manoli; A Kokkofitou; D Tsambaos
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

2.  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

3.  Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Authors:  I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

4.  SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.

Authors:  K M Madsen; L Hasholt; J Berger; S A Sørensen
Journal:  Clin Mol Pathol       Date:  1996-10

5.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

6.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172

7.  Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

Authors:  Jiwon Seo; Minji Kim; Geu-Ru Hong; Dae-Seong Kim; Jang-Won Son; In Jeong Cho; Chi Young Shim; Hyuk-Jae Chang; Jong-Won Ha; Namsik Chung
Journal:  J Hum Genet       Date:  2016-05-26       Impact factor: 3.172

8.  De novo mutation in a male patient with Fabry disease: a case report.

Authors:  Francesco Iemolo; Federica Pizzo; Giuseppe Albeggiani; Carmela Zizzo; Paolo Colomba; Simone Scalia; Caterina Bartolotta; Giovanni Duro
Journal:  BMC Res Notes       Date:  2014-01-07

9.  Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Authors:  Alberto Ortiz; Ademola Abiose; Daniel G Bichet; Gustavo Cabrera; Joel Charrow; Dominique P Germain; Robert J Hopkin; Ana Jovanovic; Aleš Linhart; Sonia S Maruti; Michael Mauer; João P Oliveira; Manesh R Patel; Juan Politei; Stephen Waldek; Christoph Wanner; Han-Wook Yoo; David G Warnock
Journal:  J Med Genet       Date:  2016-03-18       Impact factor: 6.318
  9 in total

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