National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine female male Sequence Analysis anemia pmid:28102861 doi:10.1038/gim.2016.197 hideki muramatsu yusuke okuno seiji kojima aplastic / diagnosis* aplastic / genetics* bone marrow diseases / diagnosis* bone marrow diseases / genetics* bone marrow failure disorders exome / genetics genetic testing hemoglobinuria paroxysmal / diagnosis* paroxysmal / genetics* high-throughput nucleotide sequencing / methods high-throughput nucleotide sequencing / statistics & numerical data* mutation / genetics dna / methods whole exome sequencing / methods