4.5 Article

Functional analysis of 11 novel GBA alleles

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

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

Hamid Saranjam et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Review Genetics & Heredity

Gaucher Disease Paradigm: From ERAD to Comorbidity

Inna Bendikov-Bar et al.

HUMAN MUTATION (2012)

Review Endocrinology & Metabolism

The enigma of the E326K mutation in acid β-glucocerebrosidase

Mia Horowitz et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Biochemistry & Molecular Biology

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

I Ron et al.

HUMAN MOLECULAR GENETICS (2005)

Letter Genetics & Heredity

Gaucher mutation N188S is associated with myoclonic epilepsy

L Kowarz et al.

HUMAN MUTATION (2005)

Article Biochemical Research Methods

Coot:: model-building tools for molecular graphics

P Emsley et al.

ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2004)

Article Biochemical Research Methods

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

G Yeo et al.

JOURNAL OF COMPUTATIONAL BIOLOGY (2004)

Article Chemistry, Multidisciplinary

UCSF chimera - A visualization system for exploratory research and analysis

EF Pettersen et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)

Article Biochemistry & Molecular Biology

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

H Dvir et al.

EMBO REPORTS (2003)

Article Genetics & Heredity

Human gene mutation database (HGMD®):: 2003 update

PD Stenson et al.

HUMAN MUTATION (2003)

Article Genetics & Heredity

Analysis of the Glucocerebrosidase Gene and Mutation Profile in 144 Italian Gaucher Patients

Mirella Filocamo et al.

HUMAN MUTATION (2002)

Article Genetics & Heredity

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

V Koprivica et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)