FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation-Reference-Cited by-同舟云学术

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Published:2002-03-11 Issue:4 Volume:30 Page:436-440
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Meloni Ilaria,Muscettola Maddalena,Raynaud Martine,Longo Ilaria,Bruttini Mirella,Moizard Marie-Pierre,Gomot Marie,Chelly Jamel,des Portes Vincent,Fryns Jean-Pierre,Ropers Hans-Hilger,Magi Barbara,Bellan Cristina,Volpi Nila,Yntema Helger G.,Lewis Sarah E.,Schaffer Jean E.,Renieri Alessandra

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng857z.pdf

Reference30 articles.

1. Chiurazzi, P., Hamel, B.C.J. & Neri, G. XLMR genes: update 2000. Eur. J. Hum. Genet. 9, 71–81 (2001).

2. Jonsson, J. et al. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X-linked contiguous gene deletion syndrome? J. Med. Genet. 35, 273–278 (1998).

3. Vitelli, F. et al. Identification and characterization of a higly conserved protein absent in the Alport S. (A), Mental retardation (M), Midface hypoplasia (M), and Elliptocytosis (E), contiguous gene deletion syndrome. Genomics 55, 335–340 (1999).

4. Meloni, I. et al. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J. Med. Genet. 39, (in the press).

5. Piccini, M. et al. KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterisation of the human and mouse homologs. Genomics 60, 251–257 (1999).

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