4.4 Article

KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Related references

Note: Only part of the references are listed.
Review Genetics & Heredity

De Novo Mutations Reflect Development and Aging of the Human Germline

J. M. Goldmann et al.

TRENDS IN GENETICS (2019)

Article Clinical Neurology

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

Yao Zhao et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2011)

Review Biochemistry & Molecular Biology

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

Florence Riant et al.

FEBS JOURNAL (2010)

Article Genetics & Heredity

Identification of two novel mutations and of a novel critical region in the KRIT1 gene

Vito Guarnieri et al.

NEUROGENETICS (2007)

Review Clinical Neurology

Genetics of cavernous angiomas

Pierre Labouge et al.

LANCET NEUROLOGY (2007)

Article Clinical Neurology

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

C Denier et al.

ANNALS OF NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

F Cavé-Riant et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2002)

Article Genetics & Heredity

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

DJ Verlaan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)