Genetic testing for choroideremia
نویسندگان
چکیده
منابع مشابه
Choroideremia; clinical and genetic aspects.
(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...
متن کاملMolecular genetic diagnostic techniques in choroideremia
PURPOSE To optimize and streamline molecular genetics techniques in diagnosing choroideremia (CHM). METHODS PCR primers were designed for exons 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, and 15 of the CHM gene. Each PCR protocol was optimized so that all exons could be amplified with the same component ratio and PCR conditions. Sense and antisense primers were tested for their ability to be used as seq...
متن کاملChoroideremia * Clinical and Genetic Aspects by Arnold Sorsby
(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...
متن کاملGenetic Testing for Neurofibromatosis
©2017 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 14 Applies to all products admin...
متن کاملGenetic Testing for Epilepsy
©2016 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 23 Applies to all products admin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.08