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Volumn 95, Issue 4, 2010, Pages 689-690
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Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia - do we have to screen?
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Author keywords
Bone marrow failure; Childhood; Myelodysplastic syndrome
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Indexed keywords
FLUDARABINE;
GENE PRODUCT;
GENOMIC DNA;
LEUCINE;
SHWACHMAN PROTEIN;
THIOTEPA;
UNCLASSIFIED DRUG;
VALINE;
ADOLESCENT;
ADULT;
ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION;
AMINO ACID SUBSTITUTION;
BEHAVIOR DISORDER;
BONE MALFORMATION;
BONE MARROW BIOPSY;
CHILD;
CLINICAL FEATURE;
COGNITIVE DEFECT;
CONTROLLED STUDY;
CYTOPENIA;
DNA SEQUENCE;
GENE MUTATION;
GENETIC ANALYSIS;
GENETIC SCREENING;
GENETIC VARIABILITY;
GRAFT VERSUS HOST REACTION;
HETEROZYGOSITY;
HLA MATCHING;
HOMOZYGOSITY;
HUMAN;
HUMAN TISSUE;
KIDNEY MALFORMATION;
LETTER;
MAJOR CLINICAL STUDY;
MUTATIONAL ANALYSIS;
MYELODYSPLASTIC SYNDROME;
PRESCHOOL CHILD;
REDUCED INTENSITY CONDITIONING;
REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;
SCHOOL CHILD;
SHORT STATURE;
SHWACHMAN SYNDROME;
URINARY TRACT MALFORMATION;
ABNORMALITIES, MULTIPLE;
ANEMIA, REFRACTORY;
HUMANS;
MASS SCREENING;
MUTATION;
PROGNOSIS;
PROTEINS;
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EID: 77950676447
PISSN: 03906078
EISSN: 15928721
Source Type: Journal
DOI: 10.3324/haematol.2009.015008 Document Type: Letter |
Times cited : (10)
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References (10)
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