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I148T associata: 3 casi: I148T –H609R / mutazione severa ->FC classica

I148T associata: 3 casi: I148T –H609R / mutazione severa ->FC classica 2 casi: I148T+3199del6 /mutazione severa -> FC classica 1 caso: I148T-R347P /con mutazione severa -> FC mild 1 caso: I148T- R31C / mutazione mild in trans ->oligospermia

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I148T associata: 3 casi: I148T –H609R / mutazione severa ->FC classica

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  1. I148T associata: 3 casi: I148T –H609R / mutazione severa ->FC classica 2 casi: I148T+3199del6 /mutazione severa -> FC classica 1 caso: I148T-R347P /con mutazione severa -> FC mild 1 caso: I148T- R31C / mutazione mild in trans ->oligospermia 2 casi I148T/ mutazione in trans -> test del sudore negativo e assenza di sintomi clinici

  2. G576A: G149R-G576A-R668C/ N1303K -> FC classica S589I-G576A-R668C / F508del -> FC classica G576A / F508del -> test del sudore borderline, assenza di sintomatologia clinica G576A / N* -> 2 casi di pancreatite idiopatica G576A / N* -> 3 casi di poliposi nasale cronica * Eseguito l’analisi del gene con DHPLC -> in presenza della variante G576A è consigliabile eseguire l’analisi molecolare estesa a tutto il gene CFTR

  3. ALLELI COMPLESSI:Risultati ottenuti su 27 pazienti affetti da Fibrosi Cistica • 1898+3A->G/186-13C->G in omozigosi -> FC, PS, mild disease • G542X/L1096R-L967S->FC • DeltaF508/2183AA->G-V1153E->FC • DeltaF508/W361R-R334L->FC • DeltaF508/Y1032C-L137P->FC • DeltaF508/S997F-R1438W->FC • DeltaF508/D1270N-R74W – CBAVD • DeltaF508/D443Y-G576A-R668C

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