Literature DB >> 1301953

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.

G S He1, M E Grace, G A Grabowski.   

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Year:  1992        PMID： 1301953     DOI： 10.1002/humu.1380010513

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  10 in total

1.  Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.

Authors:  H Ida; K Iwasawa; H Kawame; O M Rennert; K Maekawa; Y Eto
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

Review 2.  Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Authors:  E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1993-06-15       Impact factor: 11.205

3.  Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Authors:  Shahzeb Hassan; Grisel Lopez; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2018-06-28       Impact factor: 4.797

4.  Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.

Authors:  M E Grace; R J Desnick; G M Pastores
Journal:  J Clin Invest       Date:  1997-05-15       Impact factor: 14.808

5.  A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Authors:  Hamid Saranjam; Sameer S Chopra; Harvey Levy; Barbara K Stubblefield; Emerson Maniwang; Ian J Cohen; Hagit Baris; Ellen Sidransky; Nahid Tayebi
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

6.  Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

Authors:  M E Grace; P Ashton-Prolla; G M Pastores; A Soni; R J Desnick
Journal:  J Clin Invest       Date:  1999-03       Impact factor: 14.808

7.  Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation.

Authors:  Jia-Ni Guo; Ming Guan; Nan Jiang; Na Li; Ya-Jun Li; Jin Zhang; Duan Ma
Journal:  Front Genet       Date:  2022-05-27       Impact factor: 4.772

8.  Glucocerebrosidase mutations in Gaucher disease.

Authors:  E Beutler; A Demina; T Gelbart
Journal:  Mol Med       Date:  1994-11       Impact factor: 6.354

9.  Variants associated with Gaucher disease in multiple system atrophy.

Authors:  Jun Mitsui; Takashi Matsukawa; Hidenao Sasaki; Ichiro Yabe; Masaaki Matsushima; Alexandra Dürr; Alexis Brice; Hiroshi Takashima; Akio Kikuchi; Masashi Aoki; Hiroyuki Ishiura; Tsutomu Yasuda; Hidetoshi Date; Budrul Ahsan; Atsushi Iwata; Jun Goto; Yaeko Ichikawa; Yasuo Nakahara; Yoshio Momose; Yuji Takahashi; Kenju Hara; Akiyoshi Kakita; Mitsunori Yamada; Hitoshi Takahashi; Osamu Onodera; Masatoyo Nishizawa; Hirohisa Watanabe; Mizuki Ito; Gen Sobue; Kinya Ishikawa; Hidehiro Mizusawa; Kazuaki Kanai; Takamichi Hattori; Satoshi Kuwabara; Kimihito Arai; Shigeru Koyano; Yoshiyuki Kuroiwa; Kazuko Hasegawa; Tatsuhiko Yuasa; Kenichi Yasui; Kenji Nakashima; Hijiri Ito; Yuishin Izumi; Ryuji Kaji; Takeo Kato; Susumu Kusunoki; Yasushi Osaki; Masahiro Horiuchi; Tomoyoshi Kondo; Shigeo Murayama; Nobutaka Hattori; Mitsutoshi Yamamoto; Miho Murata; Wataru Satake; Tatsushi Toda; Alessandro Filla; Thomas Klockgether; Ullrich Wüllner; Garth Nicholson; Sid Gilman; Caroline M Tanner; Walter A Kukull; Mathew B Stern; Virginia M-Y Lee; John Q Trojanowski; Eliezer Masliah; Phillip A Low; Paola Sandroni; Laurie J Ozelius; Tatiana Foroud; Shoji Tsuji
Journal:  Ann Clin Transl Neurol       Date:  2015-02-28       Impact factor: 4.511

10.  Genetic and clinical characteristics of Filipino patients with Gaucher disease.

Authors:  Mary Anne D Chiong; Marie Julianne C Racoma; Mary Ann R Abacan
Journal:  Mol Genet Metab Rep       Date:  2018-04-05
  10 in total

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