Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results von Coppin, Hélène, Totaro, Angela, Gasparini, Paolo, Worwood, Mark, Darke, Chris, Rochette, Jacques, Shearman, Jeremy D, Mosser, Annick, Elsey, Terence S, Dooley, James S, David, Véronique, Vandwalle, Jean Luc, Ryan, Eleanor, Borot, Nicolas, Roetto, Antonella, Robson, Kathryn J.H, Crowe, John, Walker, Ann P, Cox, Timothy M, Clare, Michael, Kelly, Alison, Roth, Marie-Paule, Jouanolle, Anne Marie, Bomford, Adrian, Camaschella, Clara, Wallace, Daniel F, Le Gall, Jean-Yves, Pointon, Jennifer J, Halsall, David J, Merryweather-Clarke, Alison T, Saeb-Parsy, Kasra

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Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case von Halsall, David J., Halligan, Eugene P., Elsey, Terence S., Cox, Timothy M.

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Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder ‘hereditary hyperferritinaemia without cataracts’ von Bhuva, Meha, Sen, Sambit, Elsey, Terence, Atoyebi, Wale, Dreau, Helene, Bradbury, Charlotte, Johnston, Rosalynd, Bignell, Patricia, Griffiths, William

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A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism von Sagi, Satyanarayana V, Joshi, Hareesh, Trotman, Jamie, Elsey, Terence, Swamy, Ashwini, Rajkanna, Jeyanthy, Bhat, Nazir A, Haddadin, Firas J S, Oyibo, Samson O, Park, Soo-Mi

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