(Q28185427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284644

9 September 2022

author name string

R A White

1

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L L Peters

2

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L R Adkison

3

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C M Cohen

5

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S E Lux

6

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White RA

1

1 reference

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9 September 2022

Adkison LR

3

1 reference

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9 September 2022

Korsgren C

4

1 reference

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9 September 2022

Cohen CM

5

1 reference

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9 September 2022

Lux SE

6

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0992-80

9 September 2022

language of work or name

English

0 references

publication date

September 1992

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published in

Nature Genetics

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volume

2

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page(s)

80-3

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issue

1

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exact match

0 references

cites work

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice

1 reference

Ultrastructure of developing melanosomes in C57 Black and pallid mice

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Spectrin-based membrane skeleton: a multipotential adaptor between plasma membrane and cytoplasm

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Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2

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Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane

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Primary structure of keratinocyte transglutaminase

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Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIII

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7 January 2021

Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane

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A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis

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A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings

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7 January 2021

Confidence limits for estimates of gene linkage based on analysis of recombinant inbred strains.

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Lysosomal mutations increase susceptibility to anaesthetics

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Cocoa: a new mouse model for platelet storage pool deficiency

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Sandy: a new mouse model for platelet storage pool deficiency

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A NEW MUTATION IN THE HOUSE MOUSE (MUS MUSCULUS)

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Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements

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7 January 2021

Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon

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7 January 2021

Pigmentation and lysosome function in mice homozygous for both pale ear and beige-J pigment genes

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7 January 2021

The Hermansky–Pudlak Syndrome

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7 January 2021

Abnormal Platelet Function in Chediak-Higashi Syndrome

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7 January 2021

Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology

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7 January 2021

Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity

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7 January 2021

Mutations in mice that influence natural killer (NK) cell activity

1 reference

7 January 2021

The beige mutation in the mouse selectively impairs natural killer cell function

1 reference

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

7 January 2021

Murine erythrocyte ankyrin cDNA: highly conserved regions of the regulatory domain

1 reference

7 January 2021