Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations by Genet, S., Cranston, T., Middleton‐Price, H. R.

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Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease by Roos, D, de Boer, M, Kuribayashi, F, Meischl, C, Weening, RS, Segal, AW, Ahlin, A, Nemet, K, Hossle, JP, Bernatowska-Matuszkiewicz, E, Middleton-Price, H

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Mutations in the X-Linked and Autosomal Recessive Forms of Chronic Granulomatous Disease by Roos, Dirk, Boer, Martin de, Kuribayashi, Futoshi, Meischl, Christof, Weening, Ron S., Segal, Anthony W., Åhlin, Anders, Nemet, Katalin, Hossle, Johann Peter, Bernatowska-Matuszkiewicz, Ewa, Middleton-Price, Helen

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Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17 by MIDDLETON-PRICE, H. R, HARDING, A. E, MONTEIRO, C, BERCIANO, J, MALCOLM, S

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Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial by Marteau, Theresa, Senior, Victoria, Humphries, Steve E., Bobrow, Martin, Cranston, Treena, Crook, Martin A., Day, Lorna, Fernandez, Maryam, Horne, Rob, Iversen, Andrew, Jackson, Zoe, Lynas, Jacqui, Middleton-Price, Helen, Savine, Richard, Sikorski, Jim, Watson, Melanie, Weinman, John, Wierzbicki, Anthony S., Wray, Richard

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The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24) by Heath, Karen E., Luong, Le-ahn, Leonard, James V., Chester, Ann, Shoulders, Carol C., Scott, James, Middleton-Price, Helen R., Humphries, Steve E., Talmud, Philippa J.

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Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia : relationship with plasma lipid traits, heart disease risk and utility in relative t... by HUMPHRIES, Steve E, CRANSTON, Treena, WIERZBICKI, Anthony S, ALIEN, Marcus, MIDDLETON-PRICE, Helen, FERNANDEZ, Maryam C, SENIOR, Victoria, HAWE, Emma, IVERSEN, Andrew, WRAY, Richard, CROOK, Martin A

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Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins by Lacour, M, Middleton-Price, H R, Harper, J I

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The major cystic fibrosis mutation in a British population by MCMHON, C. J, GENET, S. A, MIDDLETON-PRICE, H. R, RUTLAND, P, PEMBREY, M. E, MALCOLM, S

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Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy by Love, D R, Flint, T J, Genet, S A, Middleton-Price, H R, Davies, K E

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Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22 by Lovering, Ruth, Middleton-Price, Helen R., O'Reilly, Marie-Anne J., Genet, Sally A., Parkar, Mohammed, Sweatman, Angela K., Bradley, Linda D., Alterman, Lesley A., Malcolm, Sue, Morgan, Gareth, Levinsky, Roland J., Kinnon, Christine

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Identification of deletions in the btk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia by LOVERING, R. C, SWEATMAN, A, LEVINSKY, R. J, KINNON, C, GENET, S. A, MIDDLETON-PRICE, H. R, VETRIE, D, VORECHOVSKY, I, BENTLEY, D, FONTAN, G, ESPANOL, T, MORGAN, G

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A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia by Sweatman, A, Lovering, R, Middleton-Price, H, Jones, A, Morgan, G, Levinsky, R, Kinnon, C

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Regional chromosomal localisation of APOA2 to 1q21-1q23 by Middleton-Price, H R, van den Berghe, J A, Scott, J, Knott, T J, Malcolm, S

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Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia by LOVERING, R, SWEATMAN, A. K, O'REILLY, M.-A. J, GENET, S. A, MIDDLETON-PRICE, H, MALCOLM, S, LEVINSKY, R. J, KINNON, C

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A gene for FG syndrome maps in the Xq12-q21.31 region by Briault, Sylvain, Hill, Ruth, Shrimpton, Antony, Zhu, Danping, Till, Marianne, Ronce, Nathalie, Margaritte-Jeannin, Patricia, Baraitser, Michael, Middleton-Price, Helen, Malcolm, Sue, Thompson, Elizabeth, Hoo, Joe, Wilson, Golder, Romano, Corrado, Guichet, Agnès, Pembrey, Marcus, Fontes, Michel, Poustka, Annemarie, Moraine, Claude

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Regional chromosomal localisation of APOA2 to1q21-1q23 by MIDDLETON-PRICE, H. R, VAN DER BERGHE, J. E, SCOTT, J, KNOTT, T. J, MALCOLM, S

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