(Q50526903)

14 March 2018

title

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. (English)

1 reference

14 March 2018

1 reference

A Renieri

1

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14 March 2018

M T Bassi

2

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14 March 2018

L Galli

3

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14 March 2018

J Zhou

4

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14 March 2018

M Giani

5

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14 March 2018

M De Marchi

6

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14 March 2018

A Ballabio

7

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14 March 2018

publication date

1 January 1994

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

4

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14 March 2018

issue

3

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14 March 2018

page(s)

195-198

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14 March 2018

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Diffuse leiomyomatosis in Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Genetics of classic Alport's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Molecular genetics of Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040304

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040304

1 reference

14 March 2018

1 reference

14 March 2018