Literature DB >> 2164807

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.

Y Fukuhara1, H Sakuraba, A Oshima, M Shimmoto, Y Nagao, Y Nadaoka, T Suzuki, Y Suzuki.   

Abstract

A partial deletion involving exon 3 associated with a single base change (A to C) was found in the alpha-galactosidase A gene of a hemizygous male Fabry patient and his mother, a heterozygous proband. This 402-bp deletion was flanked by 6-bp direct repeat sequences, and the intervening portion was found to have unique complementary sequences. These specific structures may have promoted "slipped mispairing" in this family.

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Year:  1990        PMID： 2164807     DOI： 10.1016/0006-291x(90)91273-u

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


  8 in total

1.  Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Authors:  S Ishii; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  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

3.  Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

Authors:  T Okumiya; S Ishii; R Kase; S Kamei; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

4.  Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissues.

Authors:  S Ishii; R Kase; H Sakuraba; C Taya; H Yonekawa; T Okumiya; Y Matsuda; K Mannen; M Takeshita; Y Suzuki
Journal:  Glycoconj J       Date:  1998-06       Impact factor: 2.916

5.  A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

Authors:  S H Pearce; T Cheetham; H Imrie; B Vaidya; N D Barnes; R W Bilous; D Carr; K Meeran; N J Shaw; C S Smith; A D Toft; G Williams; P Kendall-Taylor
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

6.  Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Authors:  R S Wildin; M J Antush; R L Bennett; J M Schoof; C R Scott
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

7.  Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene.

Authors:  Jan Lukas; Joan Torras; Itziar Navarro; Anne-Katrin Giese; Tobias Böttcher; Hermann Mascher; Karl J Lackner; Guenter Fauler; Eduard Paschke; Josep M Cruzado; Ales Dudesek; Matthias Wittstock; Wolfgang Meyer; Arndt Rolfs
Journal:  Clin Kidney J       Date:  2012-10

Review 8.  Genetic architecture of common non-Alzheimer's disease dementias.

Authors:  Rita Guerreiro; Elizabeth Gibbons; Miguel Tábuas-Pereira; Celia Kun-Rodrigues; Gustavo C Santo; Jose Bras
Journal:  Neurobiol Dis       Date:  2020-05-19       Impact factor: 5.996
  8 in total

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