![The TAZ sequencing electrophoregrams showing position c.285-1 of the TAZ sequence (NM_000116) (indicated by an arrow).(A) The results in the fetus and proband’s sibling: hemizygous mutation (c.[285-1G>C];[0]); A1: forward strand; A2: reverse strand.(B) The fragments of the TAZ gene sequences of the proband, mother and maternal grandmother: heterozygous form (c.[285-1G>C];[=]); B1: forward strand; B2: reverse strand.](https://sciendo-parsed.s3.eu-central-1.amazonaws.com/647107522b88470fbea14460/j_bjmg-2016-0043_fig_002.jpg?X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Credential=ASIA6AP2G7AKOLDSTF5E%2F20251216%2Feu-central-1%2Fs3%2Faws4_request&X-Amz-Date=20251216T192015Z&X-Amz-Expires=3600&X-Amz-Security-Token=IQoJb3JpZ2luX2VjEJ7%2F%2F%2F%2F%2F%2F%2F%2F%2F%2FwEaDGV1LWNlbnRyYWwtMSJIMEYCIQCMf%2Bn3%2FKNSdNh4ZdmH6fqRuJLg4auxfkomwzG6WZJJIAIhANLqjs1Na4mtSvfJaHXDICxZLcRbbvKaUaUUZnBs4oILKrwFCGcQAhoMOTYzMTM0Mjg5OTQwIgxegoRVBRZ3blQuV8QqmQVAtOEnv13ZiMUri6xWJ8p3vgLscwVCM55zH0qIdXhNOg%2FIhBT2IWXsP4QF0P60Xt3yPM1Umhi6PEtfmcJ9T4H4dIx01%2Bk%2BPTaAnTF6lRXqfy%2BGzzc0nQuxUhzIOpcbo6VoOYJD%2BEK%2FNXTsbAi8Eobmg8EKg7u9J0KRZcgSS%2FNuwlhX6KzlK8m5vviaMo7UjcvAbqTtHisB5k%2FFAUqoPdbzhto5W%2F89aiYx3YigTv43opbd%2F0WMlg2QTIxVD3uv6l%2BENnjIAts8SAdJeMAN5qftG2ueFajs6fJc%2FuccMnpRrYxGMp9BiK4EUaM3B03NeWzFgv9JIEwujECWgzKd4tN2G%2Fe7isjsA5XjyXJnMehEtcQzm7RNA4pSKdtCa36DpDv5nyfREpovOQMTrfeJ%2Be0yE8TE7YFWpU6tM58Bn0pBojyI59CS177BwOWJudKDY9a6L3l8HMY9OxQP2%2F8K2Au5Xm0xBnWRFjkR%2F6YoPGIrDl7oey5jhKpLZazyjiTvWalkajgjDt7f62Y9JgJx4Tvm9kvQ%2B5EDXNnifQQRZYO%2FGubFTZmnLbH819xJrtpFkVrKb%2F2oBiErtyoa4%2B0sVkqJGFFs4K06BJIBN0ypt5ioBlDZdc8UKQnKew%2FU%2FKHDAsXEqeV05Xqy0Xl%2BBrv7Uk6XD02GrQniGtacpeikfe94ZZCGFb%2BqZPicpfO9xhkUzZBBMqgu6lWEcsWVSHwNxiD6dZNl95HjBwTLwnR7CiNC4MGFhMTFzslqKVN90Tm%2FD2uTLHI4vu%2FCu%2BJfDPNeOrcFoQssH1508i%2BP8qFUP6LIEtz7gjTnZw%2BvAwI0nnOx1EIOiLd4v2dQGfeF0HQbqfT0UEZr9qK3K8tDHlInx0uYJB4FXKbKjmhxajCpwoXKBjqwAezTQOaYiEW302w9F1SO97amT4Jxn1VOujRUIB0nUHAl7XH1R%2B0UyDugRiHLTCo9xEbLKCL4ekU1dyJRoljB8prhsjkTPXA8guGng3fLxk%2Ff5jZLmZNrc75fWI8rBygJAlWrVWeUGLW%2Br3OQs7Gm%2FwhmOTVpWem2mbJcRW1G0OfgCnvBhnIhmwUa7vJoIvxZAyRGGsMmPzMdnVCqUj1%2Fe9f3tjyyhATp66yqfIOKgUXt&X-Amz-Signature=acf92daf95eb9fdf707714da6c0a3f72497fc6c244bd8e6ce3f5f55484d006d1&X-Amz-SignedHeaders=host&x-amz-checksum-mode=ENABLED&x-id=GetObject)
Figures & Tables
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome
By: M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus and V Kučinskas
DOI: https://doi.org/10.1515/bjmg-2016-0043 | Journal eISSN: 2199-5761
Language: English
Page range: 95 - 100
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Related subjects:
© 2016 M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.