Term
| Alzheimers protein mutation |
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Definition
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Term
|
Definition
| Microtubule mutation - a tubulin |
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Term
| Henoch-Schonlein purpura = HSP |
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Definition
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Term
| PCD = Primary ciliary dyskinesia |
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Definition
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Term
| Hypertrophic cardiomyopathy |
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Definition
| Actin mutation - heavy chain or in myosin head (R404Q) |
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|
Term
| Lerber's Optic Neuropathy |
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Definition
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Term
|
Definition
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|
Term
| Ragged Muscle Fibre Syndrome |
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Definition
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Term
|
Definition
| Non-muscle Myosin - blood clotting (enlarged platelets) |
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Term
|
Definition
| Myosin - deafness (stereo cilia) |
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Term
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Definition
| Myo5a mutation - pigmentation defects |
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Term
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Definition
| Blistering caused by defects in cell-cell adhesion |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| GPCR mutation in parathyroid hormone receptor (PTHR) |
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Term
|
Definition
| GPCR causing hyperthyroidism |
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Term
|
Definition
| GPCR = antagonistic antibodies |
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Term
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Definition
| GPCR - inhibits G(inhibitor) |
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Term
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Definition
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Term
| Hutchinson Gilford Progeria Syndrome |
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Definition
| LMNA gene - Nuclear envelope |
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Term
|
Definition
| Nuclear associated protein for protein export |
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Term
|
Definition
| Nuclear pore complex mutation - ALADIN mutation - reduced import |
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Term
|
Definition
| cancer via formation of R loops which halt transcription |
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Term
|
Definition
| Nucleolus - RPS19 - low red blood cell count |
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Term
|
Definition
| Nucleolus - snoRNP associated protein mutation |
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Term
| Treacher Collins syndrome |
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Definition
| Nucleolus - nucleolar protein TCOF1 mutation |
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Term
|
Definition
| proto oncogoene mutation resulting in Leukaemia |
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Term
|
Definition
| Nuclear Gems - protein for snRNP biogenesis |
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Term
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Definition
| Nuclear Speckles - PRP31 mutation |
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