✦ LIBER ✦

Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase – a case of familial cholinesterasemia

✍ Scribed by Norikazu Sakamoto; Kazuo Hidaka; Takashi Fujisawa; Mitsuo Maeda; Iwao Iuchi

Book ID: 117075824
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 171 KB
Volume: 274
Category: Article
ISSN: 0009-8981
DOI: 10.1016/s0009-8981(98)00058-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Nonsense mutation in exon 2 of the butyr

Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia

✍ Kazuo Hidaka; Iwao Iuchi; Toshiko Yamasaki; Naoki Ueda; Kouichi Hukano 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 545 KB

A case of familial hyper-cholinesterasem

A case of familial hyper-cholinesterasemia associated with isozyme variant band

✍ Yamamoto, Kyosuke ;Morito, Fumitaka ;Motomura, Mitsuaki ;Kaneoka, Hidetoshi ;Sak 📂 Article 📅 1986 🏛 Springer-Verlag 🌐 English ⚖ 716 KB

A point mutation associated with a sever

A point mutation associated with a severe phenotype of neurofibromatosis 2

✍ Dr M. MaCcollin; Kevin Davis; N. Braverman; D. Viskochil; M. Ruttledge; R. Ojema 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 563 KB

## Abstract Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas and other nonmalignant tumors of the brain, spinal cord, and peripheral nerves. Although the average age of onset of NF2 is 20 years, some individuals may become symptomatic in c

Three different point mutations in the b

Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: Possible Japanese type alleles

✍ Kayoko Sudo; Masato Maekawa; Takashi Kanno; Setsuko Akizuki; Tadao Magara 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 509 KB

Identification of a Familial Mutation As

Identification of a Familial Mutation Associated with GABA-Transaminase Deficiency Disease

✍ Lali K. Medina-Kauwe; W.L. Nyhan; K.M. Gibson; A.J. Tobin 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 241 KB

Three point mutations of human butyrylch

Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure

✍ Koichi Asanuma; Atsuhito Yagihashi; Nobuyuki Uehara; Takashi Kida; Naoki Watanab 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 398 KB