Haematology (incl blood transfusion)

Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency
H Hanawa, K Watanabe, T Nakamura, Y Ogawa, K Toba, I Fuse, M Kodama, K Kato, K Fuse, Y Aizawa

Journal of Medical Genetics Apr 2002, 39 (4) 286-291; DOI: 10.1136/jmg.39.4.286
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
S A Abdalla, U W Geisthoff, D Bonneau, H Plauchu, J McDonald, S Kennedy, M E Faughnan, M Letarte

Journal of Medical Genetics Jul 2003, 40 (7) 494-502; DOI: 10.1136/jmg.40.7.494
Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H
M D Teare, A Cox, J Shorto, C Anderson, D T Bishop, C Cannings

Journal of Medical Genetics Jul 2004, 41 (7) 523-528; DOI: 10.1136/jmg.2003.017293
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam

Journal of Medical Genetics Oct 2003, 40 (10) 761-766; DOI: 10.1136/jmg.40.10.761
CHEK2 1100delC and colorectal cancer
O Kilpivaara, P Laiho, L A Aaltonen, H Nevanlinna

Journal of Medical Genetics Oct 2003, 40 (10) e110; DOI: 10.1136/jmg.40.10.e110
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, G M Enns

Journal of Medical Genetics Nov 2003, 40 (11) e125; DOI: 10.1136/jmg.40.11.e125
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome
Delphine Héron, Christian Bonnard, Claude Moraine, Annick Toutain

Journal of Medical Genetics Aug 2001, 38 (8) e27; DOI: 10.1136/jmg.38.8.e27
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1
H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes

Journal of Medical Genetics Apr 2004, 41 (4) e49; DOI: 10.1136/jmg.2003.013318

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Haematology (incl blood transfusion)