PMC Links for OMIM (Select 616618) - PMC

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Items: 3

Select item 52417431.

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

Yuichi Yagita, Kyoko Shinohara, Yuichi Abe, Keiko Nakagawa, Mohammed Al-Owain, Fowzan S. Alkuraya, Yukio Fujiki

J Biol Chem. 2017 Jan 13; 292(2): 691–705. Published online 2016 Nov 29. doi: 10.1074/jbc.M116.760090

PMCID:: PMC5241743

Article PDF–7.9M

Select item 35618652.

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Leen Abu-Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al-Owain, Jawahir Al-Zahrani, Lama Al-Abdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-zack, Malik Nassan, Zuhair N. Al-Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah Alkharashi, Emad Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

Genome Res. 2013 Feb; 23(2): 236–247. doi: 10.1101/gr.144105.112

PMCID:: PMC3561865

Article PDF–1.1M

Select item 30143573.

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol-Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi, Samuele Gherardi, Giuseppe Loffredo, Daniela De Rocco, Saverio Scianguetta, Serena Barozzi, Pamela Magini, Valeria Bozzi, Luca Dezzani, Mariateresa Di Stazio, Marcella Ferraro, Giovanni Perini, Marco Seri, Carlo L. Balduini

Am J Hum Genet. 2011 Jan 7; 88(1): 115–120. doi: 10.1016/j.ajhg.2010.12.006