(Q63979953)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

title

Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

1 reference

1

1 reference

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15 September 2019

Georges Deschenes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

3

M Sanak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

author name string

J Zhou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

P Cochat

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

B Roussel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

F Gros

7

1 reference

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15 September 2019

B Knebelmann

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

M C Hors-Cayla

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

K Tryggvason

10

1 reference

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15 September 2019

language of work or name

English

0 references

publication date

1 November 1992

1 reference

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15 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453602%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

issue

5

1 reference

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15 September 2019

page(s)

1178-1183

1 reference

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

15 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Alport's syndrome. A report of 58 cases and a review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Genetics of classic Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Localization of the gene for classic Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Localization of the gene for X-linked Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Linkage studies in X-linked Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

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/10.1038%2FKI.1992.402

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Alport syndrome caused by a 5' deletion within the COL4A5 gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

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/10.1038%2FKI.1992.402

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/10.1038%2FKI.1992.402

7 January 2021

Diffuse leiomyomatosis of the oesophagus

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Diffuse leiomyomatosis in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Alport's syndrome and achalasia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Alport's syndrome and the eye.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Diffuse esophageal leiomyomatosis in a patient with Alport syndrome: CT demonstration

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Familial oesophageal leiomyomatosis and nephropathy.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021

Tumor suppressor genes

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.402

7 January 2021