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8. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
作者:Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics
; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine
; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service
; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics
; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology
; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics
; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics
; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology
; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics
; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom
刊名:Acta Neuropathologica Communications
出版年:2014
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