Study Detail

TitleExome sequencing of porphyria patients
Study TypeOther
Abstract Whole exome sequencing of severely affected porphyria patients on a SOLiD 5500xl platform to identify genetic modifiers that influence on clinical penetrance.
Description Whole exome sequencing of severely affected porphyria patients on a SOLiD 5500xl platform to identify genetic modifiers that influence on clinical penetrance.
Center NameRoyal Prince Alfred Hospital