scholarly journals Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

2020 ◽  
Vol 13 (5) ◽  
pp. dmm041608
Author(s):  
Nozomu Yoshioka ◽  
Yudai Kabata ◽  
Momona Kuriyama ◽  
Norihisa Bizen ◽  
Li Zhou ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Phenotypic Heterogeneity ◽  
Dystonia Musculorum

MFSD8 gene mutations; evidence for phenotypic heterogeneity

2019 ◽  
Vol 40 (2) ◽  
pp. 141-145 ◽  
Author(s):  
Davood Zare-Abdollahi ◽  
Ata Bushehri ◽  
Afagh Alavi ◽  
Alireza Dehghani ◽  
Mohammadreza Mousavi-Mirkala ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Phenotypic Heterogeneity ◽  
Mfsd8 Gene

WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A110-A110
Author(s):  
McTaggart Sj ◽  
Algar E ◽  
Chow Cw ◽  
Powell Hr ◽  
Jones CL.
Keyword(s):  
Gene Mutations ◽  
Wt1 Gene ◽  
Frasier Syndrome

1068: TP53 Gene Mutations as a Prognostic Marker for PSA Progression in Early Stage Prostate Cancer

2004 ◽  
Vol 171 (4S) ◽  
pp. 282-282
Author(s):  
Markus D. Sachs ◽  
Horst Schlechte ◽  
Katrin Schiemenz ◽  
Severin V. Lenk ◽  
Dietmar Schnorr ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prognostic Marker ◽  
Early Stage ◽  
Gene Mutations ◽  
Tp53 Gene ◽  
Psa Progression ◽  
Tp53 Gene Mutations
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