✦ LIBER ✦

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

✍ Scribed by Leeman, K T; Dobson, L; Towne, M; Dukhovny, D; Joshi, M; Stoler, J; Agrawal, P B

Book ID: 123609852
Publisher: Nature Publishing Group
Year: 2014
Tongue: English
Weight: 128 KB
Volume: 34
Category: Article
ISSN: 1300-5251
DOI: 10.1038/jp.2014.20

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lethal Cystic Kidney Disease in Amish Ne

Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3

✍ Michael A. Simpson; Harold E. Cross; Leroy Cross; Mervin Helmuth; Andrew H. Cros 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 871 KB

Germline mutations in PRKCSH are associa

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

✍ Drenth, Joost P.H.; te Morsche, Rene H.M.; Smink, Renate; Bonifacino, Juan S.; J 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 326 KB

Two novel presenilin-1 mutations (Y256S

Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer’s disease

✍ Judith Miklossy; Kevin Taddei; Domizio Suva; Giuseppe Verdile; Justin Fonte; Chr 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 272 KB

Mutations in GBA are associated with fam

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

✍ Nichols, W. C.; Pankratz, N.; Marek, D. K.; Pauciulo, M. W.; Elsaesser, V. E.; H 📂 Article 📅 2008 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 338 KB

Mutations in the VMD2 gene are associate

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

✍ Krämer, Franziska; White, Karen; Pauleikhoff, Daniel; Gehrig, Andrea; Passmore, 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 153 KB

The two novel CETP mutations Gln87X and

The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease

✍ Jeffrey Rhyne; Michael J. Ryan; Charles White; Theodore Chimonas; Michael Miller 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 136 KB