Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2008-02-01
著者
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AHMAD Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University
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Chishti Muhammad
パキスタン
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Chishti Muhammad
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
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Ahmad Wasim
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
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BHATTI Attya
Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University
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TAMIM Sana
Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University
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LEE Kwanghyuk
Department of Molecular and Human Genetics, Baylor College of Medicine
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MCDONALD Merry-Lynn
Department of Molecular and Human Genetics, Baylor College of Medicine
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LEAL Suzanne
Department of Molecular and Human Genetics, Baylor College of Medicine
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Tamim Sana
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
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Bhatti Attya
Department Of Biochemistry Faculty Of Biological Sciences Quaid-i-azam University
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Leal Suzanne
Department Of Molecular And Human Genetics Baylor College Of Medicine
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Lee Kwanghyuk
Department Of Molecular And Human Genetics Baylor College Of Medicine
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Mcdonald Merry-lynn
Department Of Molecular And Human Genetics Baylor College Of Medicine
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Chishti Muhammad
Department Of Biochemistry 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
- 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 distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
- Mitochondrial DNA variant interactions modify breast cancer risk
- 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