Duran, M.

cancer mutation breast patient study breast cancer risk carrier genetic stage ttd mice university figure mouse analysis association level breast cancer genetics service department protein repair state allele control transcription defect brca 2 mutations center hospital america blood ammonia table service centre pediatrics institute brca 1 genet model stage 1 medicine syndrome sample hyperinsulinism variant treatment brca 2 carriers population erasmus rotterdam glutamine effect blood ammonia levels blot analysis glutamate hyperammonemia result ttd mouse p-value liver number region netherland sprr 2 gene tfiih family research genome-wide health symptom genotyping reason downloaded ashkenazi rotterdam trichothiodystrophy penetrance mouse xpd gene cysteine-rich matrix proteins basal erasmu