(Q73111333)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533071%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1 (English)

1 reference

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1 November 2019

author name string

B Yuan

1

1 reference

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1 November 2019

J P Thomas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533071%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Y von Kodolitsch

3

1 reference

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1 November 2019

R E Pyeritz

4

1 reference

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1 November 2019

publication date

1 January 1999

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1 November 2019

1 reference

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1 November 2019

volume

14

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1 November 2019

page(s)

440-446

1 reference

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1 November 2019

issue

5

1 reference

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Revised genomic organization of FBN1 and significance for regulated gene expression

1 November 2019

cites work

1 reference

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21 January 2018

Resolving DNA mutations

1 reference

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Revised diagnostic criteria for the Marfan syndrome

21 January 2018

1 reference

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The question of heterogeneity in Marfan syndrome

21 January 2018

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Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

21 January 2018

1 reference

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Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

21 January 2018

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Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

21 January 2018

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Report card on molecular genetic testing: room for improvement?

21 January 2018

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Resequencing and mutational analysis using oligonucleotide microarrays

21 January 2018

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Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays

21 January 2018

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Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

21 January 2018

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Fidelity of DNA polymerases in DNA amplification

21 January 2018

1 reference

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High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

21 January 2018

1 reference

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Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

21 January 2018

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Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

21 January 2018

1 reference

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A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

21 January 2018

1 reference

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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

21 January 2018

1 reference

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Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases

21 January 2018

1 reference

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Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

21 January 2018

1 reference

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Detection of p53 gene mutations: analysis by single-strand conformation polymorphism and Cleavase fragment length polymorphism

21 January 2018

1 reference

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A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

21 January 2018

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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

21 January 2018

1 reference

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The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

21 January 2018

1 reference

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Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

21 January 2018

1 reference

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Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

21 January 2018

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Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

21 January 2018

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Detection of 81 of 81 known mouse beta-globin promoter mutations with T4 endonuclease VII--the EMC method

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P

21 January 2018

Identifiers

DOI

0 references

1 reference