Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GP1) deficiency

Glucose-6-phosphate isomerase (GPI) deficiency, an autosomal recessive genetic disorder with the typical manifestation of nonspherocytic haemolytic anaemia, can be associated in some cases with neurological impairment. GPI has been found to be identical to neuroleukin (NLK), which has neurotrophic a...

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Veröffentlicht in:	Human genetics 1998-10, Vol.103 (4), p.450-454
Hauptverfasser:	KUGLER, W, BREME, K, LASPE, P, MUIRHEAD, H, DAVIES, C, WINKLER, H, SCHRÖTER, W, LAKOMEK, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia, Hemolytic, Congenital Nonspherocytic - genetics Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells Glucose-6-Phosphate Isomerase - genetics Hematologic and hematopoietic diseases Humans Medical sciences Mutation, Missense Nervous System Diseases - genetics Protein Folding Sequence Analysis, DNA
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