✦ LIBER ✦

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

✍ Scribed by Gilles Millat; Karim Chikh; Saule Naureckiene; David E. Sleat; Anthony H. Fensom; Katsumi Higaki; Milan Elleder; Peter Lobel; Marie T. Vanier

Book ID: 117853731
Publisher: American Society of Human Genetics
Year: 2001
Tongue: English
Weight: 385 KB
Volume: 69
Category: Article
ISSN: 0002-9297
DOI: 10.1086/324068

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Investigation of the genotype-phenotype

Investigation of the genotype-phenotype correlation in the Toronto Niemann-Pick type C disease population

✍ Maha Saleh; Brigitte Rigat; Ramses Badilla-Poras; Don Mahuran; Margaret Mackrell 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 71 KB

The Demographics and Distribution of Typ

The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations

✍ Calogera M. Simonaro; Robert J. Desnick; Margaret M. McGovern; Melissa P. Wasser 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 243 KB

Identification of 58 novel mutations in

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

✍ Walter D. Park; John F. O'Brien; Patrick A. Lundquist; Daniel L. Kraft; Cate Wal 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB

Identification of 25 new mutations in 40

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

✍ EM Fernandez-Valero; A Ballart; C Iturriaga; M Lluch; J Macias; MT Vanier; M Pin 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB

Niemann–Pick type C disease: Novel NPC1

Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency

✍ Hiroaki Tamura; Tsutomu Takahashi; Nobuhiro Ban; Hiroyuki Torisu; Haruaki Ninomi 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 854 KB

Diagnosis of Niemann-Pick disease type C

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

✍ Zhang, Huiwen; Wang, Yu; Lin, Na; Yang, Rui; Qiu, Wenjuan; Han, Lianshu; Ye, Jun 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 358 KB