Literature DB >> 10425080

Identification of three novel mutations in the MYO7A gene

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Abstract

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.

Entities:  

Year:  1999        PMID： 10425080     DOI： 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6

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


  3 in total

1.  Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Authors:  Crystel Bonnet; M'hamed Grati; Sandrine Marlin; Jacqueline Levilliers; Jean-Pierre Hardelin; Marine Parodi; Magali Niasme-Grare; Diana Zelenika; Marc Délépine; Delphine Feldmann; Laurence Jonard; Aziz El-Amraoui; Dominique Weil; Bruno Delobel; Christophe Vincent; Hélène Dollfus; Marie-Madeleine Eliot; Albert David; Catherine Calais; Jacqueline Vigneron; Bettina Montaut-Verient; Dominique Bonneau; Jacques Dubin; Christel Thauvin; Alain Duvillard; Christine Francannet; Thierry Mom; Didier Lacombe; Françoise Duriez; Valérie Drouin-Garraud; Marie-Françoise Thuillier-Obstoy; Sabine Sigaudy; Anne-Marie Frances; Patrick Collignon; Georges Challe; Rémy Couderc; Mark Lathrop; José-Alain Sahel; Jean Weissenbach; Christine Petit; Françoise Denoyelle
Journal:  Orphanet J Rare Dis       Date:  2011-05-11       Impact factor: 4.123

2.  Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Authors:  María José Aparisi; Gema García-García; Elena Aller; María Dolores Sequedo; Cristina Martínez-Fernández de la Cámara; Regina Rodrigo; Miguel Armengot; Julio Cortijo; Javier Milara; Manuel Díaz-LLopis; Teresa Jaijo; José María Millán
Journal:  PLoS One       Date:  2013-02-25       Impact factor: 3.240

3.  High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Authors:  Carla Fuster-García; Gema García-García; Teresa Jaijo; Neus Fornés; Carmen Ayuso; Miguel Fernández-Burriel; Ana Sánchez-De la Morena; Elena Aller; José M Millán
Journal:  Sci Rep       Date:  2018-11-20       Impact factor: 4.379
  3 in total

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