High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families...
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
About this item
Full title
Author / Creator
Aretz, S , Stienen, D , Uhlhaas, S , Stolte, M , Entius, M M , Loff, S , Back, W , Kaufmann, A , Keller, K-M , Blaas, S H , Siebert, R , Vogt, S , Spranger, S , Holinski-Feder, E , Sunde, L , Propping, P and Friedl, W
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
Background:In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown.Methods:Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to have JPS.Results:By direct sequencing of the tw...
Alternative Titles
Full title
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2752176
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2752176
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2007.052506
