Modelli di ereditarietà mendeliana complicati - SunHope

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NRL is a transcription factor regulating Rhodopsin expression. Retinal degeneration caused by splicing factors Mutations in PRP3, PRP31, PRPC8 cause autosomal dominant retinitis pigmentosa. These three proteins are pre-mRNA splicing factors and are ubiquitously expressed.
RETINITIS PIGMENTOSA All types of inheritance have been described in RP (autosomal dominant, autosomal recessive, Xlinked and mitochondrial)
Page 1 and 2: Complicazioni rispetto ai principal
Page 5 and 6: Espressività variabile Manifestazi
Page 9 and 10: Penetranza incompleta la penetranza
Page 11 and 12: Un esempio di penetranza incompleta
Page 15 and 16: RETINITIS PIGMENTOSA The most frequ
Page 17 and 18: RETINITIS PIGMENTOSA Molecular gene
Page 19 and 20: MOLECULAR PATWAYS INVOLVED IN RP PA
Page 21: MOLECULAR PATWAYS INVOLVED IN RP PA
Page 25 and 26: GENES MOST COMMONLY INVOLVED IN Oth
Page 27 and 28: GENES INVOLVED IN AR-RP MERTK PDE6B
Page 29 and 30: GENES INVOLVED IN XL-RP RPGR (RP3)
Page 31 and 32: GENES INVOLVED IN BARDET- BIEDLE SY
Page 33 and 34: - new mutations - recessive inherit
Page 35 and 36: DIGENIC INHERITANCE HAS BEEN OBSERV
Page 37 and 38: Mosaicismo Mosaicismo: condizione i
Page 39 and 40: Mosaicismo Mosaicismo germinale: ne
Page 43 and 44: Come apparira’ un’albero di mal
Page 45 and 46: Alcune classi particolari di malatt
Page 47 and 48: Le proteine mitocondriali sono prod
Page 49 and 50: POLIPLASMIA In ogni cellula sono pr
Page 51 and 52: - 16.569 bp GENOMA MITOCONDRIALE -
Page 53 and 54: Malattie mitocondriali L’eredita
Page 55 and 56: Neuropatia Ottica Ereditaria di Leb
Page 57 and 58: IMPRINTING GENOMICO: La battaglia d
Page 59 and 60: The expression of an imprinted gene
Page 61 and 62: Altre osservazioni • Gravidanze u
Page 63 and 64: CARATTERISTICHE DEI GENI IMPRINTED
Page 65 and 66: METILAZIONE DIFFERENZIALE (presenza
Page 67 and 68: IMPRINTING E MALATTIE GENETICHE •
Page 69 and 70: Sindrome di Prader - Willi • Ipot
Page 71 and 72: Prader-Willi (PWS) Angelman (AS)
Page 73 and 74:
Il gene PWS è espresso Esclusivame
Page 75 and 76:
The PWS/AS Imprinting Cluster
Page 77 and 78:
Silver-Russell syndrome (SRS) conge
Page 79 and 80:
Pathogenesis of BWS CDKN1C KCNQ1OT1
Page 81 and 82:
La genetica della sindrome BWS •
Page 83 and 84:
MODELLO DEL CONFLITTO PARENTALE •
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Modelli di ereditarietà mendeliana complicati - SunHope

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