منابع مشابه
PGK deficiency.
Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manife...
متن کاملIdentification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.
Phosphoglycerate kinase (PGK) deficiency is generally associated with chronic hemolytic anemia, although it can be accompanied by either mental retardation or muscular disease. Genomic DNAs of two PGK-deficient patients previously described in France were sequenced directly after polymerase chain reaction amplification. The PGK Créteil variant arises from a G-->A nucleotide interchange at posit...
متن کاملPGK - NEO cassette
1. Abstract 2. Introduction 3. Methods and Materials 3.1. Generation of the targeting vector 3.2. Electroporation, selection and screening of embryonic stem (ES) cells 3.3. Blastocyst injection and animal breeding 3.4. Isolation of RNA, Quantitative PCR and whole-mount in situ hybridization 3.5. Skeletal X-rays and staining 4. Results 4.1. Generation of Zic3 4.2. Upregulation of Zic3 expression...
متن کاملFlexible Hinges in Bacterial Chemoreceptors.
Transmembrane bacterial chemoreceptors are extended, rod-shaped homodimers with ligand-binding sites at one end and interaction sites for signaling complex formation and histidine kinase control at the other. There are atomic-resolution structures of chemoreceptor fragments but not of intact, membrane-inserted receptors. Electron tomography of in vivo signaling complex arrays lack distinct dens...
متن کاملFlexible antibodies with nonprotein hinges
There is a significant need for antibodies that can bind targets with greater affinity. Here we describe a novel strategy employing chemical semisynthesis to produce symmetroadhesins: antibody-like molecules having nonprotein hinge regions that are more flexible and extendible and are capable of two-handed binding. Native chemical ligation was carried out under mild, non-denaturing conditions t...
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ژورنال
عنوان ژورنال: Nature
سال: 1997
ISSN: 0028-0836,1476-4687
DOI: 10.1038/385204a0