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Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search

Paolo Gasparini, Emanuele Miraglia del Giudice, J. Delaunay, Antonio Totaro, Matteo Granatiero, Salvatore Melchionda, L. Zelante, Achille Iolascon

The American Journal of Human Genetics · 1997 · 100 citations · 14 references

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14

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

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Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified‐Serum Test: a Type of Congenital Dyserythropoietic Anaemia

J. H. Crookston, Marie C. Crookston, Katherine L. Burnie et al. · British Journal of Haematology · 1969 · 215 citations

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Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans.

Kelley W. Moremen, Phillips W. Robbins · The Journal of Cell Biology · 1991 · 142 citations · Full text

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Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.

Michiko N. Fukuda, Anne Dell, Paolo Scartezzini · Journal of Biological Chemistry · 1987 · 105 citations · Full text

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Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.

Michiko N. Fukuda, Khaled A. Masri, Anne Dell et al. · Proceedings of the National Academy of Sciences · 1990 · 103 citations

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