A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

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CLINICAL & EXPERIMENTAL DERMATOLOGY, Vol. 307-6938, Iss. 7, 2015-10 ,pp. : 757-760

John Wiley & Sons Inc

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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

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CLINICAL & EXPERIMENTAL DERMATOLOGY, Vol. 40, Iss. 7, 2015-10 ,pp. : 757-760

John Wiley & Sons Inc

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A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

By Remes Anne   Filppula Sirpa   Rantala Heikki   Leisti Jaakko   Ruokonen Aimo   Sharma Satyan   Juffer André   Hiltunen J.  

Journal of Molecular Medicine, Vol. 82, Iss. 8, 2004-08 ,pp. : 550-554

Springer Publishing Company

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A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia

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PEDIATRIC BLOOD & CANCER (ELECTRONIC), Vol. 62, Iss. 10, 2015-10 ,pp. : 1870-1871

John Wiley & Sons Inc

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A missense mutation in CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

By Lahat Hadas   Pras Elon   Eldar Michael  

Annals of Medicine, Vol. 36, Iss. 1, 2004-05 ,pp. : 87-91

Informa Healthcare

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