PMID: 25651269

Mazumdar M, Christiani DC, Biswas SK, Ibne-Hasan OS, Kapur K, Hug C
Elevated sweat chloride levels due to arsenic toxicity.
N Engl J Med. 2015 Feb 5;372(6):582-4. doi: 10.1056/NEJMc1413312., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCC7 p.Val456Ala
X
ABCC7 p.Val456Ala 25651269:46:527
status: NEW
view ABCC7 p.Val456Ala details
 Age Male Sex Smoking Status History of Skin Lesions Sweat Conductivity Sweat Chloride Arsenic in Drinking Water Arsenic in Fingernails FEV 1 CFTR Sequencing At Enrollment (2001-2003) At Follow-up (2007-2009) Currently (2013-2014) At Enrollment (2001-2003) At Follow-up (2007-2009) Currently (2013-2014) Reportable Variantߤ yr mmol/liter &#b5;g/liter &#b5;g/g % ߒ1 55 No Never No 75 62 431.0 420.0 155.7 14.08 17.83 20.86 97 p.I807 M (c.2421A࢐G) ߒ2 28 Yes Current No 69 63 88.3 - 151.9 9.42 - 12.52 87 p.V456A (c.1367T࢐C) ߒ3 33 Yes Previous No 86 63 24.2 150.0 12.0 4.00 1.30 1.69 85 c.3469-20T࢐C ߒ4 40 Yes Never Yes 98 66 38.6 69.0 8.9 9.85 1.90 3.07 51 c.4243-16A࢐G ߒ5 30 Yes Never Yes 76 68 535.0 43.0 19.4 11.86 11.81 12.99 89 No mutations ߒ6 38 Yes Current No 76 69 1.1 - 60.6 9.64 - 11.61 77 12/5T; 10/9Tߥ ߒ7 55 Yes Current Yes 74 70 661.0 30.0 0.4 18.28 10.84 26.48 114 No mutations ߒ8 58 Yes Previous Yes 58 72 553.0 900.0 1.1 19.42 29.43 12.83 80 No mutations ߒ9 37 Yes Never No 83 75 33.0 11.0 1.8 3.47 4.15 4.71 78 No mutations 10 42 Yes Current Yes 88 76 697.0 920.0 0.9 24.06 45.19 5.86 54 No mutations 11 65 Yes Previous Yes 84 78 839.0 - 15.2 15.72 15.95 11.54 104 No mutations * FEV 1 denotes forced expiratory volume in 1 second, and dashes indicate that the participant was not evaluated in a 2007-2009 follow-up study. Login to comment