Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

By Gould Douglas B.   Marchant Jeffrey K.   Savinova Olga V.   Smith Richard S.   John Simon W.M.  

Human Molecular Genetics, Vol. 16, Iss. 7, 2007-04 ,pp. : 798-807

Oxford University Press

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Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

By Lamandé S.R.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 981-989

Oxford University Press

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Normotensive blood pressure in mice with a disrupted renin Ren-1d gene

By Bertaux F.  

Transgenic Research, Vol. 6, Iss. 3, 1997-01 ,pp. : 191-196

Springer Publishing Company

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Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

By Fava C.   Montagnana M.   Rosberg L.   Burri P.   Almgren P.   Jnsson A.   Wanby P.   Lippi G.   Minuz P.   Hulthn L.U.   Aurell M.   Melander O.  

Human Molecular Genetics, Vol. 17, Iss. 3, 2008-02 ,pp. : 413-418

Oxford University Press

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A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

By Zeeuwen P.L.J.M.  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2867-2875

Oxford University Press

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