Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search (Q35249929)

7 August 2017

title

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search (English)

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congenital dyserythropoietic anemia

7 August 2017

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Gasparini P

1

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7 August 2017

Miraglia del Giudice E

2

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7 August 2017

Delaunay J

3

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7 August 2017

Totaro A

4

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Granatiero M

5

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7 August 2017

Melchionda S

6

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7 August 2017

Zelante L

7

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7 August 2017

Iolascon A

8

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7 August 2017

language of work or name

English

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publication date

1 November 1997

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

61

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issue

5

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7 August 2017

page(s)

1112-1116

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Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

7 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

HEMPAS disease: genetic defect of glycosylation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716028

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

26 September 2018

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12 December 2020

Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow

1 reference

12 December 2020

Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25

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12 December 2020

Identifiers

DOI

10.1086/301609

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7 August 2017

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7 August 2017

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