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SpringerLink电子期刊(1)
在“
SpringerLink电子期刊
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
作者:
Tobias Eise
nberg
er (1)
Rima Slim (2) (3)
Ahmad Mansour (4)
Markus Nauck (1)
Gudrun Nür
nberg
(5) (6)
Peter Nür
nberg
(5) (6)
Christian Decker (1)
Claudia Dafinger (7)
Inga Ebermann (7)
Carsten Bergmann (1) (8) (9)
Hanno J?rn Bolz (1) (7)
关键词:
Usher syndrome
;
Deafness
;
Retinitis pigmentosa
;
ABHD12
;
PHARC
刊名:Orphanet Journal of Rare Diseases
出版年:2012
1
按出版年细分(1)
2012年(1)
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