PMID: 11788092

Castellani C, Quinzii C, Altieri S, Mastella G, Assael BM
A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.
Genet Test. 2001 Fall;5(3):249-54., [PubMed]
Sentences
No. Mutations Sentence Comment
71 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11788092:71:313
status: NEW
view ABCC7 p.Arg1162* details
 HETEROZYGOTES WITH MORE THAN ONE VALIDATED CONDITION Age at diagnosis Sex Age of condition Number (f/m) (yrs) Mutation Conditions (yrs) 1 f 54 DF508 Nasal polyps 35 Gallstones 40 Hypertension 40 2 m 45 DF508 Sinusitis 15 Nasal polyps 43 Hypertension 43 3 f 47 NT Asthma 25 Bone fracture 30 Hypertension 40 4 f 50 R1162X Asthma UK Gallstones 21 Bone fracture 37 5 f 40 NT Bone fractures 20, 22 Nasal polyps 35 Sinusitis 35 6 m 41 DF508 Sinusitis 20 Diabetes 30 Liver cirrhosis 30 7 m 35 DF508 Sinusitis UK Asthma 7 Bone fracture 16 8 m 46 711 1 G ® A Nasal polyps 14 Bone fracture 17, 45 Sinusitis 20 9 f 36 UK Asthma 12 Sinusitis 16 Bone fracture 21 NT, Not tested; UK, unknown. Login to comment