About: Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

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scientific article published on 01 January 1999

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1999 (uk) articolo scientifico (pubblicato il 1999) (it) 1999 թվականին հրատարակված գիտական հոդված (hy) im Jahr 1999 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1999 (ast) artikull shkencor i botuar më 01 janar 1999 (sq) scientific article published on 01 January 1999 (en)
publication date	wds:Q73111333-D54792A8-160D-4F4E-95A4-50369061DE00
publication date	1999-01-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73111333-041F1E5A-7B4B-4BF9-8E33-524CA5056BB6 wds:Q73111333-09207617-C220-4C9A-ADD6-139569368D7E wds:Q73111333-13510E47-6E64-42C0-B44C-D51157E32FE6 wds:Q73111333-1EB5EEBD-F10F-40A5-9C16-52CD23603CE5 wds:Q73111333-25E4E267-4DB4-4BED-99CB-BA08CBB3C01E wds:Q73111333-30F9D20E-1C4B-47CC-B7B0-89D2D8A17353 wds:Q73111333-374BEC5D-BAFC-42C6-8C88-6193C526003A wds:Q73111333-541DD4E0-D337-4637-AD9C-E6805D38B83E wds:Q73111333-5A0918CE-38B5-42C1-81F7-1A88CA64DF15 wds:Q73111333-6207846A-5EBE-427F-9C82-8A0F6627FE7D wds:Q73111333-6324CD4A-0AD9-4518-8BEF-FDF58EF04D32 wds:Q73111333-6A5B72A4-6D76-4D7B-8DC0-F3D1BE5DD6D2 wds:Q73111333-6B64FFF1-62BA-4EB8-99C4-EFD5CCE1137F wds:Q73111333-6F7A565B-4CE4-44F3-9150-4DF3F7DDDB51 wds:Q73111333-73CCE7B4-8A1F-4D54-A720-6FE504A4A370 wds:Q73111333-7BE0B1B7-7165-4F38-9040-D20E8692465D wds:Q73111333-85A3F6D0-6027-403F-B2C8-410D75EB1C86 wds:Q73111333-871850E7-60F4-4BF5-B678-90A885A61006 wds:Q73111333-89692831-14E3-4EE7-A911-B8741AF620BA wds:Q73111333-9093AB5A-198F-461F-9579-D3267B9B6405 wds:Q73111333-AEA6E5CD-297B-40BC-8E4C-5018024A9FBE wds:Q73111333-CC357B15-C847-46B0-B723-49360038A08B wds:Q73111333-CD91963E-18BD-40ED-B443-EA87DCDA7006 wds:Q73111333-CFEC4E5B-9C6F-4615-AEB4-3DAF9BDC0378 wds:Q73111333-D77299A1-6DFB-457B-872B-7D850BCDF049 wds:Q73111333-F92D3A2F-8F42-4526-B568-837B72882012 wds:Q73111333-FB20F0A6-0E00-4EA5-8421-6411C444C4E3
cites work	Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome Detection of 81 of 81 known mouse beta-globin promoter mutations with T4 endonuclease VII--the EMC method The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders Resequencing and mutational analysis using oligonucleotide microarrays Fidelity of DNA polymerases in DNA amplification Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders Revised diagnostic criteria for the Marfan syndrome Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases Detection of p53 gene mutations: analysis by single-strand conformation polymorphism and Cleavase fragment length polymorphism Revised genomic organization of FBN1 and significance for regulated gene expression Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-HinfI-I background in a myotonic dystrophy patient from India. Mutations in brief no. 210. Online The question of heterogeneity in Marfan syndrome Report card on molecular genetic testing: room for improvement? Resolving DNA mutations
author name string	wds:Q73111333-339585BF-5303-4C0E-B40A-2E9E807F5A69 wds:Q73111333-3AF72C1B-08A6-40FA-9671-89E36D7F47F7 wds:Q73111333-45340B7C-897D-4AC9-852F-D917A3030D6C wds:Q73111333-EBB57374-8869-432B-BB30-40328C851A0F
author name string	B Yuan J P Thomas Y von Kodolitsch R E Pyeritz
rdfs:label	Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (en) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (nl) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (sq)
skos:prefLabel	Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (en) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (nl) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (sq)
name	Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (en) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (nl) Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (sq)
title	wds:Q73111333-49A2BD77-8F57-46EC-A4D4-8EF6CAB3F2E0
title	Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (en)
page(s)	wds:Q73111333-5D43C2FD-7CDB-48BB-BF63-151113BA35EA
page(s)	440-446
instance of	wds:Q73111333-15729EF3-DBE2-4FA0-845D-EF6D49AB762A
instance of	scholarly article
PubMed ID	wds:Q73111333-3A1E161A-7C04-4D1B-8933-808A1DA13994
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10533071
PubMed ID	10533071
published in	wds:Q73111333-91B70EDF-64B9-41C9-A7DD-C4DD962CB406
published in	Human Mutation
issue	wds:Q73111333-5FD0E279-CB25-41F4-B4BD-B1912DF043A7
volume	wds:Q73111333-AB9C6226-D585-4FAC-A48D-59922EB34400
issue	5
volume	14
DOI	wds:Q73111333-9199CD6C-E751-4A51-B75C-C5A29213F59B
DOI	http://dx.doi.org/10.1002/(SICI)1098-1004(199911)14:5%3C440::AID-HUMU11%3E3.0.CO;2-P
DOI	10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P

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