Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Blood

Volumn 126, Issue 25, 2015, Pages 2734-2738

  Schmitz Abe, Klaus ^a,b   Ciesielski, Szymon J ^c   Schmidt, Paul J ^a,b   Campagna, Dean R ^a   Rahimov, Fedik ^a,b   Schilke, Brenda A ^c   Cuijpers, Marloes ^d   Rieneck, Klaus ^e   Lausen, Birgitte ^f   Linenberger, Michael L ^g   Sendamarai, Anoop K ^a,b   Guo, Chaoshe ^a,b   Hofmann, Inga ^b,h   Newburger, Peter E ⁱ   Matthews, Dana ^j   Shimamura, Akiko ^j   Snijders, Pieter J L M ^k   Towne, Meghan C ^a   Niemeyer, Charlotte M ^l   Watson, Henry G ^m   Dziegiel, Morten H ^e   Heeney, Matthew M ^b,h   May, Alison ⁿ   Bottomley, Sylvia S ^o   Swinkels, Dorine W ^p   Markianos, Kyriacos ^a,b   Craig, Elizabeth A ^c   Fleming, Mark D ^a,b   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF WISCONSIN MADISON   (United States)

^d VIECURI MEDICAL CENTER   (Netherlands)

^e Department of Clinical Immunology ^*  (United States)

^f University of Copenhagen   (Denmark)

^g UNIVERSITY OF WASHINGTON   (United States)

^h DANA FARBER CANCER INSTITUTE   (United States)

ⁱ UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^j SEATTLE CHILDREN S HOSPITAL   (United States)

^k Huisartsenteam Sint Willebrord   (Netherlands)

^l UNIVERSITY OF FREIBURG   (Germany)

^m ABERDEEN ROYAL INFIRMARY   (United Kingdom)

ⁿ CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^o UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK PROTEIN 70; HEAT SHOCK PROTEIN A9; MESSENGER RNA; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG; HSPA9 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HOMOZYGOTE; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MITOCHONDRION; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIDEROBLASTIC ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; DNA MICROARRAY; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; ANEMIA, SIDEROBLASTIC; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; HSP70 HEAT-SHOCK PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84951299063     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-09-659854     Document Type: Article

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