Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis (Q34085360)

30 July 2017

title

Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis (English)

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30 July 2017

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Valdes-Flores M

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30 July 2017

Kofman-Alfaro SH

series ordinal

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30 July 2017

Jimenez-Vaca AL

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30 July 2017

Cuevas-Covarrubias SA

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30 July 2017

publication date

1 August 2001

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American Journal of Medical Genetics Part A

30 July 2017

published in

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30 July 2017

volume

102

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30 July 2017

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30 July 2017

page(s)

146-148

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describes a project that uses

30 July 2017

fluorescence in situ hybridization

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based on heuristic

inferred from title

cites work

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein

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Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification

21 January 2018

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Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation

21 January 2018

1 reference

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

21 January 2018

1 reference

A Novel Point Mutation in the Steroid Sulfatase Gene in X-linked Ichthyosis

21 January 2018

1 reference

Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp

21 January 2018

1 reference

Molecular studies of deletions at the human steroid sulfatase locus

21 January 2018

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Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

21 January 2018

1 reference

X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene

21 January 2018

1 reference

Most "sporadic" cases of X-linked ichthyosis are not de novo mutations

21 January 2018

1 reference

Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis

21 January 2018

1 reference

Steroid sulphatase deficiency: identification of heterozygotes using hydrolysis of dehydroepiandrosterone sulphate by peripheral leucocytes

21 January 2018

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Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families

21 January 2018

1 reference

Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis

21 January 2018

1 reference

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1450

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release_yugzoum2pvbvnopgwmg63aiukm

30 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/yugzoum2pvbvnopgwmg63aiukm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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