Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly (Q24315919)

extracellular matrix structural constituent conferring tensile strength

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

G Breedveld

1

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I F de Coo

2

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M H Lequin

3

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W F M Arts

4

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P Heutink

5

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D B Gould

6

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S W M John

7

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B Oostra

8

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G M S Mancini

Journal of Medical Genetics

9

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language of work or name

English

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publication date

June 2006

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published in

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volume

43

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issue

6

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page(s)

490-5

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cites work

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Familial porencephaly

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Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

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The factor V G1691A mutation is a risk for porencephaly: A case-control study

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Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

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Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development

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12 December 2020

Porencephaly from periventricular intracerebral hemorrhage in a premature infant

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12 December 2020

Familial porencephaly

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12 December 2020

Familial porencephalic white matter disease in two generations

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12 December 2020

Congenital familial hemiparesis and familial porencephaly

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12 December 2020

Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia

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12 December 2020

Identifiers

DOI

10.1136/JMG.2005.035584

1 reference

1 reference

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PubMed publication ID

16107487

1 reference