Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Παρόμοια τεκμήρια

• A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
  ανά: Hersmus, Remko, κ.ά.
  Έκδοση: (2009)
• Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
  ανά: Kwok, C, κ.ά.
  Έκδοση: (1996)
• Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
  ανά: Zuffardi, O, κ.ά.
  Έκδοση: (1987)
• A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
  ανά: Remko Hersmus, κ.ά.
  Έκδοση: (2012-01-01)
• A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
  ανά: Hersmus, Remko, κ.ά.
  Έκδοση: (2012)