Ontology highlight
ABSTRACT:
SUBMITTER: Casey RT
PROVIDER: S-EPMC5441402 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Casey Ruth T RT Ascher David B DB Rattenberry Eleanor E Izatt Louise L Andrews Katrina A KA Simpson Helen L HL Challis Benjamen B Park Soo-Mi SM Bulusu Venkata R VR Lalloo Fiona F Pires Douglas E V DEV West Hannah H Clark Graeme R GR Smith Philip S PS Whitworth James J Papathomas Thomas G TG Taniere Phillipe P Savisaar Rosina R Hurst Laurence D LD Woodward Emma R ER Maher Eamonn R ER
Molecular genetics & genomic medicine 20170302 3
<h4>Purpose</h4>To evaluate the role of germline <i>SDHA</i> mutation analysis by (1) comprehensive literature review, (2) description of novel germline <i>SDHA</i> mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA.<h4>Patients and methods</h4>A systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative germline variants in UK molecular genetic laboratories was performed. To evalua ...[more]