Molecular genetics of Alport syndrome (Q40876120)

24 September 2017

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title

Molecular genetics of Alport syndrome (English)

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24 September 2017

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Tryggvason K

1

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24 September 2017

Zhou J

series ordinal

2

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24 September 2017

Hostikka SL

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3

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24 September 2017

Shows TB

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4

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24 September 2017

language of work or name

English

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publication date

1 January 1993

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24 September 2017

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24 September 2017

volume

43

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issue

1

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24 September 2017

page(s)

38-44

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

24 September 2017

cites work

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7 January 2021

Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis

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7 January 2021

Genetics of classic Alport's syndrome

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7 January 2021

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

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7 January 2021

Structure and biological activity of basement membrane proteins

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7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

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7 January 2021

Isolation of a collagen from basement membranes containing three identical - chains

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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

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7 January 2021

Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen

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7 January 2021

Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain

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7 January 2021

The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13.

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7 January 2021

Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13

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7 January 2021

Assembly of basement membranes

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7 January 2021

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

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7 January 2021

Extensive structural differences between genes for the alpha 1 and alpha 2 chains of type IV collagen despite conservation of coding sequences.

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7 January 2021

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Localization of the gene for classic Alport syndrome

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/KI.1993.8

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24 September 2017

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