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xref:PubMed:23934190
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Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in
COL4A6
and
COL4A5
.
Not available
S-EPMC8578185
|
biostudies-literature
Cite
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
Not available
S-EPMC3895628
|
biostudies-literature
Cite
Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation.
Not available
S-EPMC8043391
|
biostudies-literature
Cite
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
Not available
S-EPMC4557859
|
biostudies-literature
Cite
Targeted multiplex amplicon sequencing of type IV collagen genes (COL4A3, COL4A4, COL4A5, COL4A6) in patients with Alport syndrome
PRJNA1502590
|
ENA
Cite
COL4A6 is dispensable for autosomal recessive Alport syndrome.
Not available
S-EPMC4932521
|
biostudies-literature
Cite
Type IV Collagen Controls the Axogenesis of Cerebellar Granule Cells by Regulating Basement Membrane Integrity in Zebrafish.
Not available
S-EPMC4599943
|
biostudies-literature
Cite
Human total exome sequencing
PRJNA759552
|
ENA
Cite
Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.
Not available
S-EPMC1866637
|
biostudies-literature
Cite
Identified the novel resistant biomarkers for taxane-based therapy for triple-negative breast cancer.
Not available
S-EPMC8176163
|
biostudies-literature
Cite
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