✦ LIBER ✦

Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease

✍ Scribed by Hye Won Park; Yonghee Lee; Gu-Hwan Kim; Byong Sop Lee; Ki Soo Kim; Han-Wook Yoo; Ellen Ai-Rhan Kim

Book ID: 119241277
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 988 KB
Volume: 507
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.06.090

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

CASE REPORT: Novel Point Mutation (W184R

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

✍ Francis Y.M. Choy; Karen Wong; Hilary D. Vallance; Virginia Baldwin 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 145 KB

A novel frameshift mutation in the 5α-re

A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism

✍ Sung Hoon Kim; Kun Suk Kim; Gu Hwan Kim; Byung Moon Kang; Han Wook Yoo 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 201 KB

Gaucher type 2 disease: Identification o

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient

✍ Choy, Francis Y.M.; Humphries, M. Lisa; Ben-Yoseph, Yoav 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

A Novel Mutation (D305V) in the early gr

A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease

✍ Emilia Bellone; Emilio Di Maria; Silvia Soriani; Alessandra Varese; Laura Lamba 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 3 views

Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a

Late-onset Charcot-Marie-Tooth type 2 di

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

✍ Dagmara Kabzińska; Teresa Korwin-Piotrowska; Hanna Drechsler; Hanna Drac; Irena 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB 👁 1 views

A novel missense mutation in the early g

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

✍ Tsuyoshi Yoshihara; Fumio Kanda; Masahiko Yamamoto; Hiroyuki Ishihara; Ken-ichir 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 738 KB