E. Johnson

发表

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

J. W. Thomas, M. Boguski, L. Morrison, 1999, Human molecular genetics.

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

S. Terry, H. Göring, A. De Paepe, 2001, American journal of human genetics.

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.

E. Green, E. Golemis, D. Marchuk, 2001, Genomics.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

R. Scott, C. Ogilvy, I. Awad, 1998, Human molecular genetics.

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.

J. Weber, J. Weissenbach, L. Morrison, 1995, Genome research.

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.

J. Weber, V. Anderson, H. Orr, 1998, Human molecular genetics.

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

M. Pericak-Vance, J. Vance, M. Hamida, 1999, Genomics.

Familial cerebral cavernous angioma: A gene localized to a 15‐cm interval on chromosome 7q

K. J. Wilcox, J. Weber, V. Anderson, 1996, Annals of neurology.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

C. Liquori, D. Marchuk, L. Ptáček, 2006, Human mutation.