Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

By Berger P.  

Human Molecular Genetics, Vol. 11, Iss. 13, 2002-06 ,pp. : 1569-1579

Oxford University Press

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Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4 lymphocytes

By Murphy Amy   Chu Jen-Hwa   Xu Mousheng   Carey Vincent J.   Lazarus Ross   Liu Andy   Szefler Stanley J.   Strunk Robert   DeMuth Karen   Castro Mario   Hansel Nadia N.   Diette Gregory B.   Vonakis Becky M.   Franklin Adkinson N.   Klanderman Barbara J.   Senter-Sylvia Jody   Ziniti John   Lange Christoph   Pastinen Tomi   Raby Benjamin A.  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4745-4757

Oxford University Press

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A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR)

By Yang G.C.   Croaker D.   Zhang A.L.   Manglick P.   Cartmill T.   Cass D.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1047-1053

Oxford University Press

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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

By Aznarez I.  

Human Molecular Genetics, Vol. 12, Iss. 16, 2003-08 ,pp. : 2031-2040

Oxford University Press

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Common variants within the interleukin 4 receptor α gene (IL4R) are associated with susceptibility to osteoarthritis

By Forster Tracy   Chapman Kay   Loughlin John  

Human Genetics, Vol. 114, Iss. 4, 2004-03 ,pp. : 391-395

Springer Publishing Company

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