✦ LIBER ✦

Simultaneous Inheritance of Mutant Isoenzymes of Erythrocyte Pyruvate Kinase Associated with Chronic Haemolytic Anaemia

✍ Scribed by D. E. Paglia; G. R. Gray; G. H. Growe; W. N. Valentine

Book ID: 114708358
Publisher: John Wiley and Sons
Year: 1976
Tongue: English
Weight: 470 KB
Volume: 34
Category: Article
ISSN: 0007-1048
DOI: 10.1111/j.1365-2141.1976.tb00174.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hereditary deficiency of phosphoglycerat

Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia

✍ WOLFGANG K. G. KRIETSCH; HELGARD KRIETSCH; WOLFRAM KAISER; MANFRED DUNNWALD; GÜN 📂 Article 📅 1977 🏛 John Wiley and Sons 🌐 English ⚖ 855 KB

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA

✍ H. ROUGER; E. GIRODON; M. GOOSSENS; F. GALACTÉROS; M. COHEN-SOLAL 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 767 KB

A mutant form of pyruvate kinase (PK) from the red blood cells of a consanguineous family with severe non-spherocytic haemolytic anaemia has been characterized by polymerase chain reaction (PCR) amplification and sequencing. The variant enzyme was named PK Mondor, according to the recommendations of

The identification of a recurrent phosph

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA

✍ Jonathan M. Flanagan; Melissa Rhodes; Meredith Wilson; Ernest Beutler 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB

A case of complete adenylate kinase defi

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia

✍ Paola Bianchi; Manuela Zappa; Elena Bredi; Cristina Vercellati; Giovanni Pelisse 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB