Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

Hes, F J; van der Luijt, R B; Janssen, A L W; Zewald, R A; de Jong, G J; Lenders, J W; Links, T P; Luyten, G P M; Sijmons, R H; Eussen, H J; Halley, D J J; Lips, C J M; Pearson, P L; van den Ouweland, A M W; Majoor-Krakauer, D F

Hes, F J; van der Luijt, R B; Janssen, A L W; Zewald, R A; de Jong, G J; Lenders, J W; Links, T P; Luyten, G P M; Sijmons, R H; Eussen, H J; Halley, D J J; Lips, C J M; Pearson, P L; van den Ouweland, A M W; Majoor-Krakauer, D F.

Affiliation

Hes FJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Clin Genet ; 72(2): 122-9, 2007 Aug.

Article in En | MEDLINE | ID: mdl-17661816

Subject(s)

Gene Frequency; Germ-Line Mutation; von Hippel-Lindau Disease/diagnosis; von Hippel-Lindau Disease/genetics; Blotting, Southern; DNA Mutational Analysis; Humans; Nucleic Acid Amplification Techniques; Pedigree; Prevalence; Sequence Analysis, DNA

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Collection: 01-internacional Database: MEDLINE Main subject: Germ-Line Mutation / Gene Frequency / Von Hippel-Lindau Disease Type of study: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Clin Genet Year: 2007 Type: Article Affiliation country: Netherlands

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