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Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France

✍ Scribed by HervÉ Rouger; Colette Valentin; Constantin T. Craescu; FrÉdÉric GalactÉros; Michel Cohen-Solal


Book ID
114425004
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
240 KB
Volume
92
Category
Article
ISSN
0007-1048

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PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME
✍ 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