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. 2019 Aug 14;56(11):750–757. doi: 10.1136/jmedgenet-2019-106031

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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The genotypic features of the affected individuals. (A) The pedigrees of three families with inherited CFAP65 mutations. Probands in family 1, F1: II-2; family 2, F2: II-2 and family 3, F3: II-1 are marked with a black arrow. CFAP65 genotype of each individual is indicated with WT indicating a normal allele and M1/M2/M3/M4/M5 indicating mutant alleles. (B) Homozygosity mapping of F1: II-2. Red colour indicates the most promising homozygous regions. An asterisk (*) indicates the area where CFAP65 is located. (C) Location and nature of CFAP65 mutations in CFAP65 protein. Pink square represents the transmembrane helix region; orange square represents the ASPM-SPD-2-Hydin (ASH) domain; green square represents the major sperm protein (MSP) domain and blue square represents the coiled-coil region. NC, normal control; WT, wild type.