TY - RPRT TI - Proof of "disease causing" mutation. AU - R G Cotton AU - C R Scriver PY - 1998 DO - 10.1002/(sici)1098-1004(1998)12:1<1::aid-humu1>3.0.co;2-m UR - https://pubmed.ncbi.nlm.nih.gov/9633813/ ID - 9633813 ER -