Diagnosis of shwachman-diamond syndrome

Details Diagnosis of shwachman-diamond syndrome Diagnosis of shwachman-diamond syndrome

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 38/17 (2006.01) C07H 21/04 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01)

Patent

CA 2502636

The SBDS gene has been identified as the site of mutations associated with SDS. Methods are provided for determining whether a subject is suffering from SDS.

Aux fins de l'invention, on a identifié le gène du syndrome SBDS, dit de Shwachman-Bodian-Diamond (SBDS), comme site des mutations associées au syndrome, proprement appelé syndrome de Shwachman-Diamond (SDS). L'invention concerne également des procédés permettant de déterminer si un sujet souffre de ce syndrome.

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