Surgical diagnostic tests

The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä

Journal of Medical Genetics Oct 2007, 44 (10) e89; DOI: 10.1136/jmg.2007.051631
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
Frederic Pacho, Giovanna Zambruno, Valentina Calabresi, Dimitra Kiritsi, Holm Schneider

Journal of Medical Genetics Sep 2011, 48 (9) 640-644; DOI: 10.1136/jmg.2011.089615
Gastrointestinal polyps in McCune Albright syndrome
Margaret Zacharin, Anurag Bajpai, Chung Wo Chow, Anthony Catto-Smith, Constantine Stratakis, Michelle W Wong, Rodney Scott

Journal of Medical Genetics Jul 2011, 48 (7) 458-461; DOI: 10.1136/jmg.2010.086330
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann

Journal of Medical Genetics Mar 2009, 46 (3) 203-208; DOI: 10.1136/jmg.2008.063693
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, Pirjo-Liisa Lukinmaa

Journal of Medical Genetics May 1999, 36 (5) 398-404; DOI: 10.1136/jmg.36.5.398

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