Breakpoint junction features of seven DMD deletion mutations (Q90912850)

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17 April 2020

title

Breakpoint junction features of seven DMD deletion mutations (English)

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17 April 2020

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17 April 2020

Steve D Wilton

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17 April 2020

Sue Fletcher

series ordinal

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17 April 2020

publication date

22 August 2019

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17 April 2020

published in

Human Genome Variation

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17 April 2020

volume

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17 April 2020

page(s)

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Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing

17 April 2020

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Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

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Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

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Identifiers

DOI

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17 April 2020

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17 April 2020

PubMed publication ID

31645977

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