42 Core list HIES syndromen v1 (12-11-2015)
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
STAT3 | NM139276.2, NM003150.3 | ja | nee | nvt | |
DOCK8 | NM203447.3 | ja | ja | nvt | SALSA MLPA P385 DOCK8 probemix |
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
STAT3 | NM139276.2, NM003150.3 | ja | nee | nvt | |
DOCK8 | NM203447.3 | ja | ja | nvt | SALSA MLPA P385 DOCK8 probemix |