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Table 3 X-inactivation status of members of other families affected with MD

From: Clinical expression of Menkes disease in females with normal karyotype

Family, mutation type Unaffected carriers (n = 34).
Inactivation mutant X:normal X
Non-carriers (n = 28)
Activity of X1:X2
942, 1 bp dup exon 10 2 people: 93:7% (AM45F); 91:9% (AM44F) 1 person: 46:54% (AM93F)
91207, nonsense exon 18 3 people: 99-100:1-0% (28386B; 28384B; 28356B). 1 person: 83:17% (28388B)
  1 person: 54:46% (36054B) 1 person: 73:27% (36052B)
   2 people: 58:42% (28389B); 58:42% (36053B)
93210, 2 bp dup exon 21 2 people: 90:10% (12499B); 98:2% (12496B)  
9129, splicing intron 9 1 person: 100:0% (92-5408T) 2. people: 68:32% (91-581T); 65:35% (91-420T)
  1 person: 86:14% (91-578T)  
93220, splicing intron 6 2 people: 100:0%(12809F); 100:0% (12810F) 1 person: 90:10% (12746F)
   1 person: 60:40% (12745F)
94252, missense exon 10 2 people: 94:6% (29620B); 100:0% (29623B) 1 person: 80:20% (29619B)
  1 person: 80:20% (29617B) 2 people: 51:49% (29621B); 56:44% (29624B)
95254, missense exon 10 2 people: 98:2% (48625B); 91:8% (48627B) 1 person: 61:39% (48626B)
  1 person: 74:26% (46672B)  
94267, missense exon 12 2 people: 75:25% (37443B); 84:16% (37435B) 1 person: 74:26% (37437B)
   2 people: 51:49%(3744B2); 52:48% (37440B)
9328, missense exon 12 1 person: 100:0% (2429T) 1 person: 78:22% (2351T)
   1 person: 52:48% (2350T)
91204, exon 3_4del 2 people: 99:1% (11559F; 11761F) 1 person: 91:9% (11864B)
   1 person: 73:27% (11863B)
96249, exon 8_9del 2 people: 87:13% (65547B); 83:17% (63056B) 1 person: 73:27% (67297B)
  1 person: 78:22% (65646B)  
9727, exon 12_15 del 1 person: 81:19% (78773B) 1 person: 86:14% (29898F)
   1 person: 73:27% (32531B)
   1 person: 62:38% (32532B)
91262, exon 13_17del 3 people: 99-100:1-0% (AM261F, AM264F, 51646F)  
9720, missense exon 20 1 person: 92:8% (67806F) 1 person: 53:47% (67884F)
  2 people: 48:52% (67808F); 37:63% (67804F)  
91269, exon 13_17del 1.person:100:0% (D91-538T) 2 people:100:0% (553T); 100:0% (10340T)
   1 person: 60:40% (38179F)
  1. DNA extracted from B: blood sample; T: transformed lymphocytes; F: cultured fibroblasts.