✦ LIBER ✦

A novel IGnT allele responsible for the adult i phenotype

✍ Scribed by Marie Lin; Min-Ju Hou; Lung-Chih Yu

Book ID: 109143394
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 136 KB
Volume: 46
Category: Article
ISSN: 0372-1248
DOI: 10.1111/j.1537-2995.2006.01006.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Combined effect of a null allele and a n

Combined effect of a null allele and a non-collagenous insertion in COL1A1 mRNA is responsible for the severe phenotype in a family affected by osteogenesis imperfecta

✍ A. Forlino; Q. Wang; J.C. Marini 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 108 KB

A novel mutation in the GUCY2D gene resp

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

✍ Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Beatrice Lebail; Patrice Vlajn 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 570 KB

Patients carrying mutations in the retinal guanylate cyclase (GUCY2D) gene were reported to be constantly affected with a particular form of Leber congenital amaurosis (LCA) defined as a "congenital stationary cone-rod dystrophy with high hypermetropia, panretinal degeneration and highly reduced vis

O612 - A novel approach for the computer

O612 - A novel approach for the computer analysis and allele assignment of complex HLA class I sequences

✍ Leslie Johnston-Dow; Morgan Conrad; Mel Kronick 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 172 KB

Molecular basis of the adult i phenotype

Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen: L.C. Yu, Y.C. Twu, C.Y. Chang, et al. Blood 98:3840–3845, 2001

✍ Marion E. Reid 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 120 KB

A novel TAP2 mutation leading to the abs

A novel TAP2 mutation leading to the absence of HLA class I is responsible for a neoplastic degeneration over previous skin lesion

📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 43 KB

SV40 Tag transformation of the normal in

SV40 Tag transformation of the normal invasive trophoblast results in a premalignant phenotype. I. Mechanisms responsible for hyperinvasivess and resistance to anti-invasive action of TGFβ

✍ Nelson K. S. Khoo; John F. Bechberger; Trevor Shepherd; Shari L. Bond; Keith R. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 337 KB 👁 1 views