Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations-Reference-Cited by-同舟云学术

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Published:2013-02 Issue:2 Volume:23 Page:165-169
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ravenscroft Gianina,Thompson Elizabeth M.,Todd Emily J.,Yau Kyle S.,Kresoje Nina,Sivadorai Padma,Friend Kathryn,Riley Kate,Manton Nicholas D.,Blumbergs Peter,Fietz Michael,Duff Rachael M.,Davis Mark R.,Allcock Richard J.,Laing Nigel G.

Funder

National Health and Medical Research Council of Australia

Association Francaise contre les Myopathies

UWA Collaborative Research Award

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference25 articles.

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2. Fetal akinesia: review of the genetics of the neuromuscular causes;Ravenscroft;J Med Genet,2011

3. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis;Cox;Pediatr Dev Pathol,1999

4. Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases;Quinn;Histopathology,1991

5. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat Genet,2002

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