Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
about
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21AHuman genetic disorders of axon guidance.KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityKIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
P2860
Q21093394-E9835E9E-7189-425D-BB02-304FCE6E95FAQ24316191-51D75692-7E0C-4EE6-9462-B438E9CC4D80Q33693788-EF3BF97F-55D3-482F-83DF-1FB441D1DBC4Q34248589-B8626600-0DF0-40D1-A531-2604C6748154Q34511300-A16902E0-6D02-42EB-9AC8-B7C8D185EE03Q35603247-A790D1C5-A27E-4F7F-89DD-1E2B47EAA949Q37297536-9E598FF2-AB03-423D-8247-4A0C024A6251Q37465010-3027FB55-CF43-40C3-9656-5C0849C02906Q46685249-AC6FED80-E137-424B-9DA8-A961935E0245
P2860
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
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
name
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@ast
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@en
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@nl
type
label
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@ast
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@en
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@nl
prefLabel
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@ast
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@en
Mutation analysis of the KIF21 ...... n for most frequent mutations.
@nl
P2093
P2860
P1433
P1476
Mutation analysis of the KIF21 ...... on for most frequent mutations
@en
P2093
Anitha Ragunath
Arun Kumar
Conjeevaram Venkatesh
P2860
P304
P356
10.1080/13816810490498198
P577
2004-12-01T00:00:00Z