NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

Publisher： John Wiley & Sons Inc

E-ISSN： 1098-1004|34|11|1510-1518

ISSN： 1059-7794

Source： HUMAN MUTATION, Vol.34, Iss.11, 2013-11, pp. : 1510-1518

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

By  

THE JOURNAL OF PHYSIOLOGY, Vol. 593, Iss. 18, 2015-09 ,pp. : 4181-4199

John Wiley & Sons Inc

Access to resources Recommend Favorite

ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

By  

THE JOURNAL OF PHYSIOLOGY, Vol. 22-3751, Iss. 18, 2015-09 ,pp. : 4181-4199

John Wiley & Sons Inc

Access to resources Recommend Favorite

Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia

By  

CLINICAL GENETICS, Vol. 93, Iss. 2, 2018-02 ,pp. : 320-328

John Wiley & Sons Inc

Access to resources Recommend Favorite

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

By  

HUMAN MUTATION, Vol. 36, Iss. 11, 2015-11 ,pp. : 1052-1063

John Wiley & Sons Inc

Access to resources Recommend Favorite

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

By  

CLINICAL GENETICS, Vol. 87, Iss. 2, 2015-02 ,pp. : 141-147

John Wiley & Sons Inc

Access to resources Recommend Favorite