A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
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The genetics of sports injuries and athletic performanceHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeRecurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.c-Jun is required for the specification of joint cell fates.Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study.A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
P2860
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P2860
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A novel insertion mutation in ...... nsanguineous Pakistani family.
@ast
A novel insertion mutation in ...... nsanguineous Pakistani family.
@en
type
label
A novel insertion mutation in ...... nsanguineous Pakistani family.
@ast
A novel insertion mutation in ...... nsanguineous Pakistani family.
@en
prefLabel
A novel insertion mutation in ...... nsanguineous Pakistani family.
@ast
A novel insertion mutation in ...... nsanguineous Pakistani family.
@en
P2093
P2860
P921
P356
P1433
P1476
A novel insertion mutation in ...... nsanguineous Pakistani family.
@en
P2093
Ghazanfar Ali
Muhammad Ansar
Naveed Wasif
Syed Kamran-ul-Hassan Naqvi
Wasim Ahmad
P2860
P2888
P356
10.1186/1471-2350-9-102
P50
P577
2008-11-27T00:00:00Z
P5875
P6179
1044631942