TY - GEN AU - Schmitz-Abe,Klaus AU - Ciesielski,Szymon J AU - Schmidt,Paul J AU - Campagna,Dean R AU - Rahimov,Fedik AU - Schilke,Brenda A AU - Cuijpers,Marloes AU - Rieneck,Klaus AU - Lausen,Birgitte AU - Linenberger,Michael L AU - Sendamarai,Anoop K AU - Guo,Chaoshe AU - Hofmann,Inga AU - Newburger,Peter E AU - Matthews,Dana AU - Shimamura,Akiko AU - Snijders,Pieter J L M AU - Towne,Meghan C AU - Niemeyer,Charlotte M AU - Watson,Henry G AU - Dziegiel,Morten H AU - Heeney,Matthew M AU - May,Alison AU - Bottomley,Sylvia S AU - Swinkels,Dorine W AU - Markianos,Kyriacos AU - Craig,Elizabeth A AU - Fleming,Mark D TI - Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9 SN - 1528-0020 PY - 2016///0503 KW - Adult KW - Aged KW - Anemia, Sideroblastic KW - genetics KW - Base Sequence KW - DNA Mutational Analysis KW - Female KW - Genetic Diseases, X-Linked KW - Genotype KW - HSP70 Heat-Shock Proteins KW - Humans KW - Infant KW - Infant, Newborn KW - Male KW - Middle Aged KW - Mitochondrial Proteins KW - Molecular Sequence Data KW - Mutation KW - Oligonucleotide Array Sequence Analysis KW - Pedigree KW - Polymorphism, Single Nucleotide KW - Real-Time Polymerase Chain Reaction KW - Reverse Transcriptase Polymerase Chain Reaction KW - Young Adult N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S UR - https://doi.org/10.1182/blood-2015-09-659854 ER -