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Published byRaymonde Pépin Modified over 5 years ago
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A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene
Shilin Zhang, M.D., Tao Wang, M.D., Jun Yang, M.D., Zhuo Liu, M.D., Shaogang Wang, M.D., Jihong Liu, M.D. Fertility and Sterility Volume 95, Issue 5, Pages 1789.e e6 (April 2011) DOI: /j.fertnstert Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions
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Figure 1 Time line of the events.
Fertility and Sterility , 1789.e e6DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Sequence analysis of exon 11 of the KAL1 gene. The mutations in the patient were two transitions of two bases, G1960A and G1765A, at codon 514 and 539, creating Glu(E)514Lys(K) and Glu(E)539Lys(K) mutations, respectively. The bases of transition are indicated with arrows and the normal sequence can be seen on the left. Fertility and Sterility , 1789.e e6DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions
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