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Table 1 Clinical characteristics of DBA patients

From: Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

Patient

Gender

Mutation

(RPS19)

Steroid

Response

Follow-up

Congenital

Abnormalities

1

M

p.Arg62Trp

R/Ia

BMT/Reme

yes

2

F

p.Arg101His

Rb

TRT/Remf

no

3

F

c1-1G>A

NRc, d

BMT/Rem

no

4

M

c.del58G

R

SDg

no

  1. a R/I responsive and subsequent interruption of therapy
  2. b R responsive
  3. c this patient was transfusion dependent
  4. d NR non responsive
  5. e BMT/Rem remission after bone marrow transplant
  6. f TRT/Rem remission after treatment
  7. g SD steroid dependent
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BMC Genomics

ISSN: 1471-2164

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