Identification of novel mutations in and in a South American (ECLAMC) population with holoprosencephaly

Author： Orioli Iêda   Castilla Eduardo   Ming Jeffrey   Nazer Julio   Burle de Aguiar Marcos   Llerena Juan   Muenke Maximilian  

Publisher： Springer Publishing Company

ISSN： 0340-6717

Source： Human Genetics, Vol.109, Iss.1, 2001-07, pp. : 1-6

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

Related content

G6PD Variants in Three South American Ethnic Groups: Population Distribution and Description of Two New Mutations

By  

Human Heredity, Vol. 48, Iss. 2, 1998-02 ,pp. : 92-96

Karger

Access to resources Recommend Favorite

ECLAMC: The Latin-American Collaborative Study of Congenital Malformations

By  

Public Health Genomics, Vol. 7, Iss. 2-3, 2004-11 ,pp. : 76-94

Karger

Access to resources Recommend Favorite

The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

By Nanni Luisa  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

Oxford University Press

Access to resources Recommend Favorite

Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 3, 2015-05 ,pp. : 197-202

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

By Roessler Erich  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1847-1853

Oxford University Press

Access to resources Recommend Favorite