Molecular pathology of filamin A: diverse phenotypes, many functions.
about
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneStructure of filamin A immunoglobulin-like repeat 10 fromHomo sapiensTrio is a key guanine nucleotide exchange factor coordinating regulation of the migration and morphogenesis of granule cells in the developing cerebellum.Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles SyndromeTerminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationAn adventitious interaction of filamin A with RhoGDI2(Tyr153Glu)The structure of the GPIb-filamin A complex.A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
P2860
Q24620559-0A282BC3-F7C0-486F-BAB3-124E9143E94CQ27671595-3554E263-E9CF-4F4A-B575-0BEDF65B5697Q30495861-E02DD7FA-52C5-45EB-8B05-A47D6F123A7CQ34146747-17DE0871-7B9C-4FD4-AE15-101E30A069CBQ35000737-6A790C2D-B88A-4A05-9450-B176556E953EQ36471533-E200C633-CBD1-4B97-945E-AA137DC4603FQ42741839-F9EF3841-3C21-488E-A5B7-FF8839BB732DQ43168893-8DBAF00C-7962-412B-B848-E296E3868616Q51906849-C65AFDDF-0CB7-4087-B76B-5BDA8DC4680AQ52609952-A2E106CA-2E4C-4867-B149-7A5F56AA8465
P2860
Molecular pathology of filamin A: diverse phenotypes, many functions.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Molecular pathology of filamin A: diverse phenotypes, many functions.
@ast
Molecular pathology of filamin A: diverse phenotypes, many functions.
@en
type
label
Molecular pathology of filamin A: diverse phenotypes, many functions.
@ast
Molecular pathology of filamin A: diverse phenotypes, many functions.
@en
prefLabel
Molecular pathology of filamin A: diverse phenotypes, many functions.
@ast
Molecular pathology of filamin A: diverse phenotypes, many functions.
@en
P1476
Molecular pathology of filamin A: diverse phenotypes, many functions
@en
P2093
Stephen P Robertson
P304
P356
10.1097/01.MCD.0000130235.95356.40
P577
2004-07-01T00:00:00Z