Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency

By  

CLINICAL GENETICS, Vol. 88, Iss. 5, 2015-11 ,pp. : 484-488

John Wiley & Sons Inc

Access to resources Recommend Favorite

Splicing factor mutations and cancer

By  

WILEY INTERDISCIPLINARY REVIEWS: RNA (ELECTRONIC), Vol. 5, Iss. 4, 2014-07 ,pp. : 445-459

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

By Simurda Tomas   Zolkova Jana   Snahnicanova Zuzana   Loderer Dusan   Skornova Ingrid   Sokol Juraj   Hudecek Jan   Stasko Jan   Lasabova Zora   Kubisz Peter  

International Journal of Molecular Sciences, Vol. 19, Iss. 1, 2017-12 ,pp. : 100-100

MDPI

Access to resources Recommend Favorite

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

By Teresa-Rodrigo María E.   Eckhold Juliane   Puisac Beatriz   Dalski Andreas   Gil-Rodríguez María C.   Braunholz Diana   Baquero Carolina   Hernández-Marcos María   de Karam Juan C.   Ciero Milagros   Santos-Simarro Fernando   Lapunzina Pablo   Wierzba Jolanta   Casale César H.   Ramos Feliciano J.   Gillessen-Kaesbach Gabriele   Kaiser Frank J.   Pié Juan  

International Journal of Molecular Sciences, Vol. 15, Iss. 6, 2014-06 ,pp. : 10350-10364

MDPI

Access to resources Recommend Favorite

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

By Suarez-Artiles Lorena   Perdomo-Ramirez Ana   Ramos-Trujillo Elena   Claverie-Martin Felix  

Genes, Vol. 9, Iss. 1, 2018-01 ,pp. : 15-15

MDPI

Access to resources Recommend Favorite