000 02524 a2200793 4500
005 20250517060654.0
264 0 _c20160503
008 201605s 0 0 eng d
022 _a1528-0020
024 7 _a10.1182/blood-2015-09-659854
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSchmitz-Abe, Klaus
245 0 0 _aCongenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
_h[electronic resource]
260 _bBlood
_cDec 2015
300 _a2734-8 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aAnemia, Sideroblastic
_xgenetics
650 0 4 _aBase Sequence
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFemale
650 0 4 _aGenetic Diseases, X-Linked
_xgenetics
650 0 4 _aGenotype
650 0 4 _aHSP70 Heat-Shock Proteins
_xgenetics
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMitochondrial Proteins
_xgenetics
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aOligonucleotide Array Sequence Analysis
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aReal-Time Polymerase Chain Reaction
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
650 0 4 _aYoung Adult
700 1 _aCiesielski, Szymon J
700 1 _aSchmidt, Paul J
700 1 _aCampagna, Dean R
700 1 _aRahimov, Fedik
700 1 _aSchilke, Brenda A
700 1 _aCuijpers, Marloes
700 1 _aRieneck, Klaus
700 1 _aLausen, Birgitte
700 1 _aLinenberger, Michael L
700 1 _aSendamarai, Anoop K
700 1 _aGuo, Chaoshe
700 1 _aHofmann, Inga
700 1 _aNewburger, Peter E
700 1 _aMatthews, Dana
700 1 _aShimamura, Akiko
700 1 _aSnijders, Pieter J L M
700 1 _aTowne, Meghan C
700 1 _aNiemeyer, Charlotte M
700 1 _aWatson, Henry G
700 1 _aDziegiel, Morten H
700 1 _aHeeney, Matthew M
700 1 _aMay, Alison
700 1 _aBottomley, Sylvia S
700 1 _aSwinkels, Dorine W
700 1 _aMarkianos, Kyriacos
700 1 _aCraig, Elizabeth A
700 1 _aFleming, Mark D
773 0 _tBlood
_gvol. 126
_gno. 25
_gp. 2734-8
856 4 0 _uhttps://doi.org/10.1182/blood-2015-09-659854
_zAvailable from publisher's website
999 _c25377340
_d25377340