Most representative deregulated cellular functions in RARS patients respect to the RCUD group.

<p>Most representative deregulated cellular functions in RARS patients respect to the RCUD group.</p

Most representative deregulated cellular functions in RARS patients respect to the control group.

<p>Most representative deregulated cellular functions in RARS patients respect to the control group.</p

Variation in the <i>ALAD</i> gene in a RARS case.

<p><b>(A)</b> New missense variation in the <i>ALAD</i> gene in the BM of one RARS patient found by massive sequencing. The variation is heterozygous and is located at Chr9: 116,152,735 position in exon 7. <b>(B)</b> Protein sequences from wild-type and RARS patient. Amino-acid change in the protein sequence of ALAD in a RARS patient. Arginine (R174) is replaced by cysteine y the mutant protein. (RARS: refractory anemia with ring sideroblasts)</p