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Volume 16; Issue 20
Main
Human Molecular Genetics
Volume 16; Issue 20
Human Molecular Genetics
Volume 16; Issue 20
1
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons
Janssen, G. M.C.
,
Hensbergen, P. J.
,
van Bussel, F. J.
,
Balog, C. I.A.
,
Maassen, J. A.
,
Deelder, A. M.
,
Raap, A. K.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 426 KB
Your tags:
english, 2007
2
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
Fu, L.
,
Garland, D.
,
Yang, Z.
,
Shukla, D.
,
Rajendran, A.
,
Pearson, E.
,
Stone, E. M.
,
Zhang, K.
,
Pierce, E. A.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 1.74 MB
Your tags:
english, 2007
3
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma
Gregory-Evans, C. Y.
,
Moosajee, M.
,
Hodges, M. D.
,
Mackay, D. S.
,
Game, L.
,
Vargesson, N.
,
Bloch-Zupan, A.
,
Ruschendorf, F.
,
Santos-Pinto, L.
,
Wackens, G.
,
Gregory-Evans, K.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 714 KB
Your tags:
english, 2007
4
Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation
Peng, G.-H.
,
Chen, S.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 1.50 MB
Your tags:
english, 2007
5
Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage
Stichel, C. C.
,
Zhu, X.-R.
,
Bader, V.
,
Linnartz, B.
,
Schmidt, S.
,
Lubbert, H.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 1.59 MB
Your tags:
english, 2007
6
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
Palo, O. M.
,
Antila, M.
,
Silander, K.
,
Hennah, W.
,
Kilpinen, H.
,
Soronen, P.
,
Tuulio-Henriksson, A.
,
Kieseppa, T.
,
Partonen, T.
,
Lonnqvist, J.
,
Peltonen, L.
,
Paunio, T.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 218 KB
Your tags:
english, 2007
7
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration
Marmorstein, L. Y.
,
McLaughlin, P. J.
,
Peachey, N. S.
,
Sasaki, T.
,
Marmorstein, A. D.
Journal:
Human Molecular Genetics
Year:
2007
Language:
english
File:
PDF, 983 KB
Your tags:
english, 2007
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