Mutations
Exact page not found, but we found similar results:
NKX2-5
doi:10.1101/gr.2596504 Goldmuntz E., Geiger E., Benson D.W. (2001). NKX2.5 mutations in patients with tetralogy of fallot. Circulation. 104: 2565—2568. PMID 11714651...
ENG
J.G. (1997). Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am. J. Hum. Genet. 61: 68—79...
PAX6
L. (1992). Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat. Genet. 2: 232—239. PMID 1345175 doi:10.1038/ng1192-232...
FZD4
Hayashi H., Oshima K., Tahira T., Hayashi K. (2003). Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity...
Творець виродків
Творець виродків (англ. The Mutations) — британський фільм жахів 1974 року. Божевільний вчений Нолтер намагається створити істоту схрестивши людину з...
LMX1B
J.D., McIntosh I. (1999). Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum. Mutat....
GATA5
J.Y., Xu J.H., Yu H., Yang Y.Q. (2012). Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. Clinics (Sao Paulo). 67: 1393—1399...
SIX3
, Labelle Y. (2004). Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1...
GPR143
2596504 Oetting W.S., King R.A. (1999). Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum...
COL4A5
A.H., Smeets H.J.M. (1997). The clinical spectrum of type IV collagen mutations. Hum. Mutat. 9: 477—499. PMID 9195222 doi:10.1002/(SICI)1098-1004(199...