Figure
1 results of genetic testing of this patient (A: Standard DNA sequence;
B: index case c.223C>T, p. Arg75x, heterozygous mutation,
maternal; C: Standard DNA sequence; D: 1624G>T, p. Gly542x,
heterozygous mutation, paternal)
Reference:
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and genetic characteristics of Chinese patients with cystic fibrosis.
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[2] Shteinberg M, Haq IJ, Polineni D, Davies JC. Cystic fibrosis.
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[3] Chinese Experts Cystic Fibrosis Consensus Committee; Chinese
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Rui Zhang1, Yao Sun2*
1Department of Pharmacy,
Chengdu Women’s and Children’s
Central Hospital, School of Medicine, University of Electronic Science
and Technology of China, Chengdu, 611731, China.
2Department of Pharmacy,
Children’s Hospital of Nanjing
Medical University, Nanjing, 210008, China.
*Corresponding author:
Yao Sun, M.D, Department of Pharmacy, Children’s Hospital of Nanjing
Medical University, 72 Guangzhou Road, Nanjing 210008, China.
E-mail: sarah_0515@163.com