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A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Faiyaz-Ul-Haque, Muhammad; Zaidi, Syed Hassan Ejaz; Al-Ali, Mariam; Al-Mureikhi, Mariam S; Kennedy, Shelley; Al-Thani, Ghalia; Tsui, Lap-Chee; Teebi, Ahmad Said.
Affiliation
  • Faiyaz-Ul-Haque M; Program in Genetics and Genomic Biology, Department of Genetics, The Hospital for Sick Children, 9th Floor Elm Wing, Rm. 9115, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. muhammad@genet.sickkids.on.ca
Am J Med Genet A ; 128A(1): 39-45, 2004 Jul 01.
Article in En | MEDLINE | ID: mdl-15211654
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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Markers / Mutation, Missense / Ehlers-Danlos Syndrome / Galactosyltransferases Limits: Adult / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2004 Document type: Article Affiliation country: Canada
Search on Google
Add to My VHL
Print
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Genetic Markers / Mutation, Missense / Ehlers-Danlos Syndrome / Galactosyltransferases Limits: Adult / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2004 Document type: Article Affiliation country: Canada