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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

โœ Scribed by Muenke, Maximilian; Wallis, Deeann E.; Roessler, Erich; Hehr, Ute; Nanni, Luisa; Wiltshire, Tim; Richieri-Costa, Antonio; Gillessen-Kaesbach, Gabriele; Zackai, Elaine H.; Rommens, Johanna


Book ID
109832202
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
357 KB
Volume
22
Category
Article
ISSN
1061-4036

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Functional characterization of SIX3 home
โœ Cynthia Laflamme; Christine Filion; Yves Labelle ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 226 KB

Holoprosencephaly (HPE) is a relatively common brain malformation resulting in an incomplete separation of the two cerebral hemispheres. A number of mutations in different genes have been linked to this malformation, including three missense mutations in the homeodomain of the transcription factor S