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Literature DB >> 8069317

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

P Coucke¹, L Vits, G Van Camp, F Serville, S Lyonnet, S Kenwrick, A Rosenthal, M Wehnert, A Munnich, P J Willems.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 1994 PMID： 8069317 DOI： 10.1093/hmg/3.4.671

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

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13 in total

Review 1. X linked hydrocephalus and MASA syndrome.

Authors: S Kenwrick; M Jouet; D Donnai
Journal: J Med Genet Date: 1996-01 Impact factor: 6.318

2. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Authors: S M Gu; U Orth; A Veske; H Enders; K Klunder; M Schlosser; W Engel; E Schwinger; A Gal
Journal: J Med Genet Date: 1996-02 Impact factor: 6.318

3. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

Authors: A Bateman; M Jouet; J MacFarlane; J S Du; S Kenwrick; C Chothia
Journal: EMBO J Date: 1996-11-15 Impact factor: 11.598

4. A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

Authors: S Izumoto; M Yamasaki; N Arita; S Hiraga; T Ohnishi; K Fujitani; S Sakoda; T Hayakawa
Journal: Childs Nerv Syst Date: 1996-12 Impact factor: 1.475

5. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

Authors: M Jouet; L Strain; D Bonthron; S Kenwrick
Journal: J Med Genet Date: 1996-03 Impact factor: 6.318

6. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

Authors: T Takechi; J Tohyama; T Kurashige; K Maruta; K Uyemura; T Ohi; S Matsukura; N Sakuragawa
Journal: Hum Genet Date: 1996-03 Impact factor: 4.132

7. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Authors: Rosangela Ferese; Stefania Zampatti; Anna Maria Pia Griguoli; Francesco Fornai; Emiliano Giardina; Giuseppe Barrano; Veronica Albano; Rosa Campopiano; Simona Scala; Giuseppe Novelli; Stefano Gambardella
Journal: J Mol Neurosci Date: 2016-05-20 Impact factor: 3.444