Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits (Q77572380)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

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title

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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J R Lupski

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 October 1998

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6 December 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

14

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6 December 2019

page(s)

417-422

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6 December 2019

issue

10

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A novel α-globin gene arrangement in man

6 December 2019

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

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7 January 2021

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

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7 January 2021

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Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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