✦ LIBER ✦

Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene

✍ Scribed by Elisa Fermo; Paola Bianchi; Cristina Vercellati; Anna Paola Marcello; Massimo Garatti; Ornella Marangoni; Wilma Barcellini; Alberto Zanella

Book ID: 116304577
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 385 KB
Volume: 41
Category: Article
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2008.02.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel G143D mutation in the NADH-cytoc

A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia

✍ Prabhakar S. Kedar; Prashant Warang; Anita H. Nadkarni; Roshan B. Colah; Kanjaks 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 663 KB

Severe mental retardation and recessive

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

✍ Prabhakar S. Kedar; Prashant Warang; Kanjaksha Ghosh; Roshan B. Colah 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB

## 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

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

✍ Wilfried Kugler; Arnulf Pekrun; Petra Laspe; Bernhard Erdlenbruch; Max Lakomek 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

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

Compound heterozygosity of two missense

Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia

✍ Dorota Grabowska; Danuta Plochocka; Ewa Jablonska-Skwiecinska; Anna Chelstowska; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 685 KB

Recessive congenital methaemoglobinaemia

Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene

✍ E. P. Owen; J. Berens; A. M. Marinaki; H. Ipp; E. H. Harley 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 5 KB

Prenatal diagnosis of recessive congenit

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through

✍ Alena Leroux; France Leturcq; Nathalie Deburgrave; Marie-France Szajnert 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB