A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family
スポンサーリンク
概要
- 論文の詳細を見る
- 2010-04-01
著者
-
AHMAD Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University
-
Ahmad Wasim
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
-
Tariq Muhammad
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
-
WASIF Naveed
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University
-
Wasif Naveed
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
関連論文
- A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families
- Synthesis, Characterization and Hypoglycemic Activity of Zn(II), Cd(II) and Hg(II) Complexes with Glibenclamide
- Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)
- Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients
- Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
- Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
- A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
- A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family
- A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
- Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
- Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32
- Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families