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Results 1 - 2 of 2 for sbds
  1. Shwachman-Diamond syndrome 
    ... suspect the condition is underdiagnosed. Mutations in the SBDS gene have been identified in about 90 percent ... the cell's genetic instructions to create proteins. SBDS gene mutations reduce the amount or impair the ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  2. Severe congenital neutropenia 
    ... DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics