About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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scientific article published on 01 December 1993

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 1993 (uk) im Dezember 1993 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 1993 (ast) scientific article published on 01 December 1993 (en)
publication date	wds:Q72758259-33C7C44E-F711-42F3-B1C3-04B97AA22D63
publication date	1993-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q72758259-EDC28DA7-767F-4673-A6C2-AA4325D45AAB
language of work or name	English
exact match	wds:Q72758259-2854386D-0173-4A20-A88A-A05FFCD7E19F
exact match	https://scigraph.springernature.com/pub.10.1038/ki.1993.384
cites work	wds:Q72758259-14732B08-8DC3-4C7D-B9D5-3EE5FA6272F7 wds:Q72758259-14D2833C-6DAE-407F-866A-92FEE99EB1BB wds:Q72758259-5F55A050-F6B2-475D-B177-A0ABDBC0D0CD wds:Q72758259-6D006554-31F2-46E9-97CA-051C1C979035 wds:Q72758259-6D07B172-8575-4A51-93FF-CAA7C0452045 wds:Q72758259-7DFAB32F-0A68-4E49-ADA6-AD80E5AD928C wds:Q72758259-84682687-C1C4-42F6-83F3-573D39DCBED5 wds:Q72758259-BC3214F2-363E-4B73-80BE-80EFCDE73E33 wds:Q72758259-C05F5FF1-1E26-4275-AF7A-E6012B39959D wds:Q72758259-C0D212BE-07EB-41F7-81C4-0E19239E162D wds:Q72758259-C2B69440-F8CE-4AD6-8F15-44893A778C18 wds:Q72758259-C33461EE-A0AF-4A59-A6D9-AE25252D94C9 wds:Q72758259-C47D360E-E56A-4611-8ACA-BD56E1DEA992 wds:Q72758259-C953087C-E312-4551-A7C0-DBF3A5DA14AC wds:Q72758259-CBC72ED6-6AC9-4D5D-99A8-0E7D83C98A6E wds:Q72758259-E6937578-5810-4791-93E0-0E758771F329 wds:Q72758259-FA9F459C-5CEC-4D8C-9173-F142B3AA578A
cites work	Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome Genetics of classic Alport's syndrome Localization of the gene for X-linked Alport's syndrome Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity DNA sequencing with chain-terminating inhibitors Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome Deletions of the COL4A5 gene in patients with Alport syndrome Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome Illegitimate (or ectopic) transcription proceeds through the usual promoters Alport syndrome: a genetic study of 31 families.
author name string	wds:Q72758259-0621C385-CB33-4177-9996-7515ED900944 wds:Q72758259-8F4D20C6-E407-45C8-9D84-FECD09F3C34F wds:Q72758259-91EDC936-1189-46E9-B977-61BF439B4951 wds:Q72758259-A08C5452-A439-4EDA-AB61-C248813A3440 wds:Q72758259-BC563983-F09F-4CB8-B63C-D47F32D6A892 wds:Q72758259-E63097B0-CB40-42B6-AA6C-315FA79A64C2
author name string	P Marynen J J Cassiman H Van den Berghe C Guo B Van Damme R Van Damme-Lombaerts
rdfs:label	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 (en) 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 (nl)
skos:prefLabel	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 (en) 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 (nl)
name	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 (en) 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 (nl)
title	wds:Q72758259-746AD018-E214-449A-BEDC-244F4FA1AFDD
title	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 (en)
page(s)	wds:Q72758259-23D1002A-6BAB-4ECD-8ABF-320CF06048A7
page(s)	1316-1321
instance of	wds:Q72758259-F1470398-CE8C-4179-BB78-24607A13E676
instance of	scholarly article
PubMed ID	wds:Q72758259-953F4627-1BF9-4A1F-9AAF-EFCE86A81ABC
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8301933
PubMed ID	8301933
published in	wds:Q72758259-7B172B6E-CB6B-43CA-8CCD-B0B9B82C695C
published in	Kidney International
issue	wds:Q72758259-F528140A-E058-4F34-BA1B-5BB6E3D76804
volume	wds:Q72758259-66934F9A-7525-46EF-BC57-28DE37F04A82
issue	6
volume	44
DOI	wds:Q72758259-3E548812-795B-4CDA-B9E5-FD018D7E3F60
DOI	http://dx.doi.org/10.1038/KI.1993.384
DOI	10.1038/KI.1993.384
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72758259
is cites work of	Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
is cites work of	wds:Q73181286-0C197107-C223-48BD-94C2-5484C0E532A7 wds:Q35791352-DEB7A17A-2731-4965-B022-C6C405024736 wds:Q35882216-C5515912-44BF-4628-A815-073E62703ECA wds:Q34211184-03CC329B-4556-41AB-89D8-FC13A155D23B wds:Q72192998-52F72E0D-BB98-4D18-A7BF-439049E1C3C3 wds:Q93200269-DDD8501B-E4D1-41AA-B8E0-F993756DCDA3 wds:Q35882758-F4360D10-B9F9-4709-A6A0-1C5888F96F46 wds:Q48235468-DE5C63F3-ACA5-4EBE-B7FA-DA0DAC3ACD7D

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