Literature DB >> 9452106

Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.

P Mandich1, M Montera, E Bellone, A Trojani, S Daniele, F Ajmar.   

Abstract

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Year:  1998        PMID： 9452106     DOI： 10.1002/humu.1380110185

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


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  4 in total

1.  Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.

Authors:  R Rajasekaran; C Sudandiradoss; C George Priya Doss; Anshuman Singh; Rao Sethumadhavan
Journal:  Mamm Genome       Date:  2008-10-03       Impact factor: 2.957

2.  Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.

Authors:  Andrew Ebenazer; Simon Rajaratnam; Rekha Pai
Journal:  Fam Cancer       Date:  2013-09       Impact factor: 2.375

3.  A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.

Authors:  L Santoro; F Manganelli; E Di Maria; D Bordo; D Cassandrini; F Ajmar; P Mandich; E Bellone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-02       Impact factor: 10.154

4.  An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.

Authors:  E Bellone; P Balestra; G Ribizzi; A Schenone; G Zocchi; E Di Maria; F Ajmar; P Mandich
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-09-30       Impact factor: 10.154
  4 in total

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