Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (Articolo in rivista) (literal)

Anno

• 2000-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1006/geno.1999.6088 (literal)

Alternative label

• 62. Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP (2000)
  Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
  in Genomics (S. Diego Calif.)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• 62. Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP (literal)

Pagina inizio

• 271 (literal)

Pagina fine

• 278 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 63 (literal)

Rivista

• Genomics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 2 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone, Cosenza, Italy Hôpital de la Salpêtrière, Paris, France Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia Molecular Genetics Unit D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland IBIG, Facoltà di Medicina, Università di Genova, Genoa, Italy Facoltà di Medicina, Dipartimento di Biologia, Oncologia, e Genetica, Università di Genova, Genoa, Italy Institute of Neurology, University of Catanzaro, Italy (literal)

Titolo

• Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (literal)

Abstract

• Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating autosomal recessive motor and sensory neuropathy characterized by focally folded myelin sheaths in the peripheral nerve. We recently mapped the CMT4B gene to a 5-cM interval on chromosome 11q22, using homozygosity mapping and haplotype sharing analysis on a large inbred pedigree. In the present study, we report the construction of a YAC-based transcript map across the 5-cM critical region, including 26 YACs, 35 STSs, and 52 ESTs. Furthermore, using 15 additional physically ordered microsatellite markers from the 11q22 region on the original inbred family, we were able to narrow the critical interval for the gene to 2 Mb, which is now flanked by markers D11S1757 and CHLC-GATA3B05. Finally, after computer analysis of the 33 ESTs assigned to the 2-Mb interval, we demonstrated that 21 different transcripts as well as 3 known genes might represent potential candidates for the disease. (literal)

Prodotto di

• Institute of neurological sciences (ISN) (Istituto)

Autore CNR

• ALDO QUATTRONE (Unità di personale esterno)
• ANTONIO GAMBARDELLA (Persona)
• MARIA MUGLIA (Unità di personale interno)
• FRANCESCA LUISA CONFORTI (Unità di personale interno)

Incoming links:

Autore CNR di

• MARIA MUGLIA (Unità di personale interno)
• ALDO QUATTRONE (Unità di personale esterno)
• FRANCESCA LUISA CONFORTI (Unità di personale interno)
• ANTONIO GAMBARDELLA (Persona)

Prodotto

• Institute of neurological sciences (ISN) (Istituto)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Genomics (Rivista)