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Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: Compound heterozygous for NADH-cytochrome b5 reductase gene mutations

✍ Scribed by Prabhakar S. Kedar; Prashant Warang; Kanjaksha Ghosh; Roshan B. Colah

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 150 KB
Volume: 86
Category: Article
ISSN: 0361-8609
DOI: 10.1002/ajh.21956

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✦ Synopsis

Flow cytometry

Malignant T cells were identified by the expression of the relevant T-cell receptor Vb chain using fluorochrome-conjugated anti-Vb antibodies (Beckman Coulter, Fullerton, CA). For cases in which T-cell receptor Vb usage was unknown, malignant T cells were identified as CD4 1 /CD7 2 cells. Fluorochrome-conjugated isotype control and PD-1 monoclonal antibodies were obtained from BD Biosciences (Bedford, MA). Cells were analyzed on a FACSCalibur instrument (BD Biosciences) and analyzed using CellQuest or FACSDiva Software (BD Biosciences).

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Molecular basis of recessive congenital

Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene

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Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)cytochrome b5 reductase (b5R) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5R gene of three unrelated patients with types I and II and found four novel muta