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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.

Abstract：

:At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-donor sites, causing aberrant splicing and leading to a frameshift and protein truncation. To date, no simple missense mutations have been detected in Krit1.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Verlaan DJ,Siegel AM,Rouleau GA

doi

10.1086/340604

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

1564-7

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60708-3

journal_volume

70

pub_type

杂志文章

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