Mutations in PAX1 may be associated with Klippel–Feil syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5200987.pdf
Reference35 articles.
1. Chi N, Epstein JA: Getting your Pax straight: Pax genes in development and disease. Trends Genet 2002; 18: 41–47.
2. Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M: Chromosomal location of seven PAX genes and cloning of a novel family member, PAX-9. Nat Genet 1993; 3: 292–298.
3. Read AP, van Heyningen V: PAX genes in human developmental anomalies. Semin Dev Biol 1994; 5: 323–332.
4. Noll M: Evolution and role of Pax genes. Curr Opin Genet Dev 1993; 3: 595–605.
5. Balling R, Deutsch U, Gruss P: Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax1. Cell 1988; 55: 531–535.
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