(Q73552723)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP (English)

1 reference

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4 November 2019

1 reference

D F Barker

1

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4 November 2019

J C Denison

series ordinal

2

1 reference

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4 November 2019

C L Atkin

series ordinal

3

1 reference

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4 November 2019

M C Gregory

series ordinal

4

1 reference

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4 November 2019

publication date

1 January 2001

1 reference

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American Journal of Medical Genetics Part A

4 November 2019

published in

1 reference

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4 November 2019

volume

98

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4 November 2019

issue

2

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4 November 2019

page(s)

148-160

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

4 November 2019

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

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Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22

21 January 2018

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Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

21 January 2018

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A time-saving method for screening cDNA or genomic libraries

21 January 2018

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Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

21 January 2018

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Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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A 2D crossover-based map of the human X chromosome as a model for map integration

21 January 2018

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Detection of mutations in multi-exon genes: comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations

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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Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain

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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How sensitive is PCR-SSCP?

21 January 2018

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Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

21 January 2018

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The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network

21 January 2018

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A Complete YAC Contig and Cosmid Interval Map Covering the Entirety of Human Xq21.33 to Xq22.3 from DXS3 to DXS287

21 January 2018

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Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

21 January 2018

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Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis

21 January 2018

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Aberrant splicing of the COL4A5 gene in patients with Alport syndrome

21 January 2018

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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

21 January 2018

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Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

21 January 2018

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Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

21 January 2018

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Atypical Gly-X-Y sequences surround interruptions in the repeating tripeptide pattern of basement membrane collagen

21 January 2018

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Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

21 January 2018

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A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome

21 January 2018

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

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Detection of mutations in COL4A5 in patients with Alport Syndrome

21 January 2018

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Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection

21 January 2018

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Organization and expression of basement membrane collagen IV genes and their roles in human disorders

21 January 2018

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

21 January 2018

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The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters

21 January 2018

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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

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Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests

21 January 2018

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Design and application of 2-D DGGE-based gene mutational scanning tests

21 January 2018

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X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

21 January 2018

1 reference

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Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis

21 January 2018

1 reference

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10.1002/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference