Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q73552723)
Watch
English
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP
scientific article published on 01 January 2001
In more languages
default values for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
title
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
main subject
Alport syndrome
1 reference
based on heuristic
inferred from title
author name string
D F Barker
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
J C Denison
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
C L Atkin
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
M C Gregory
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
publication date
1 January 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
volume
98
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
page(s)
148-160
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
cites work
HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
A time-saving method for screening cDNA or genomic libraries
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
A 2D crossover-based map of the human X chromosome as a model for map integration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
How sensitive is PCR-SSCP?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
A Complete YAC Contig and Cosmid Interval Map Covering the Entirety of Human Xq21.33 to Xq22.3 from DXS3 to DXS287
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Atypical Gly-X-Y sequences surround interruptions in the repeating tripeptide pattern of basement membrane collagen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Detection of mutations in COL4A5 in patients with Alport Syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Organization and expression of basement membrane collagen IV genes and their roles in human disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Design and application of 2-D DGGE-based gene mutational scanning tests
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C148%3A%3AAID-AJMG1024%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PubMed publication ID
11223851
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11223851
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11223851%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit