Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype (Q68505557)

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24 September 2019

title

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3417309%20AND%20SRC:MED&resulttype=core&format=json

chronic granulomatous disease

24 September 2019

main subject

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Geneviève de Saint Basile

1

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24 September 2019

author name string

M C Bohler

2

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24 September 2019

A Fischer

3

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24 September 2019

J Cartron

4

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24 September 2019

J L Dufier

5

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24 September 2019

C Griscelli

6

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24 September 2019

S H Orkin

7

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24 September 2019

publication date

1 September 1988

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24 September 2019

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24 September 2019

volume

80

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24 September 2019

issue

1

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24 September 2019

page(s)

85-89

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https://scigraph.springernature.com/pub.10.1007/bf00451463

24 September 2019

exact match

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cites work

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

1 reference

12 December 2020

The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245

1 reference

12 December 2020

Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency

1 reference

12 December 2020

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g

1 reference

12 December 2020

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus

1 reference

12 December 2020

Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg

1 reference

12 December 2020

Functional relationship of the cytochrome b to the superoxide-generating oxidase of human neutrophils

1 reference

12 December 2020

Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance

1 reference

12 December 2020

Regional localisation of X chromosome short arm probes

1 reference

12 December 2020

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

1 reference

12 December 2020

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

1 reference

12 December 2020

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

1 reference

12 December 2020

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1 reference

12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

12 December 2020

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

12 December 2020

Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000

1 reference

12 December 2020

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

1 reference

12 December 2020

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

1 reference

12 December 2020

A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b, and flavoprotein

1 reference

12 December 2020

Absence of both cytochrome b−245 subunits from neutrophils in X-linked chronic granulomatous disease

1 reference

12 December 2020

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

1 reference

12 December 2020

Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00451463

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3417309%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

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