Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene

Author： Winberg Jan-Olof  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.6, Iss.7, 1997-01, pp. : 1125-1135

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

By  

Human Heredity, Vol. 50, Iss. 4, 2000-04 ,pp. : 234-236

Karger

Access to resources Recommend Favorite

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

By  

Sexual Development, Vol. 9, Iss. 3, 2015-03 ,pp. : 130-135

Karger

Access to resources Recommend Favorite

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

By Mee Lisa  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1475-1488

Oxford University Press

Access to resources Recommend Favorite

Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3 ) in a family with Bethlem myopathy

By Speer M.C.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 807-812

Oxford University Press

Access to resources Recommend Favorite

A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

By Milasin Jelena  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 73-79

Oxford University Press

Access to resources Recommend Favorite