作者: O El-Maarri , C Klein , J Junen , J Schröder , CR Müller
DOI: 10.1007/978-3-540-36715-4_56
关键词:
摘要: This highlights the usefulness of mRNA analysis for routine diagnosis such ambiguous cases including presence potential cryptic splice sites and clearly demonstrates causality mutations which is also important genetic counseling those families.