Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations

By Wollnik Bernd   Kubisch Christian   Steinmeyer Klaus   Pusch Michael  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 805-811

Oxford University Press

Access to resources Recommend Favorite

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

By Patel N.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1369-1378

Oxford University Press

Access to resources Recommend Favorite

Germline mutations of regulator of telomere elongation helicase 1, , in Dyskeratosis congenita

By Ballew Bari   Yeager Meredith   Jacobs Kevin   Giri Neelam   Boland Joseph   Burdett Laurie   Alter Blanche   Savage Sharon  

Human Genetics, Vol. 132, Iss. 4, 2013-04 ,pp. : 473-480

Springer Publishing Company

Access to resources Recommend Favorite

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1578-1581

John Wiley & Sons Inc

Access to resources Recommend Favorite

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

By Yoneyama T.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2861-2867

Oxford University Press

Access to resources Recommend Favorite