A novel ACAD8 mutation in asymptomatic patients with isobutyryl‐CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|87|2|196-198

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.87, Iss.2, 2015-02, pp. : 196-198

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

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

By Micheal Shazia   Niewold Ilse Therésia Gabriëla   Siddiqui Sorath Noorani   Zafar Saemah Nuzhat   Khan Muhammad Imran   Bergen Arthur A. B.  

Genes, Vol. 9, Iss. 2, 2018-02 ,pp. : 112-112

MDPI

Access to resources Recommend Favorite

A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

By  

ANNALS OF HUMAN GENETICS, Vol. 79, Iss. 2, 2015-03 ,pp. : 92-98

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutation in Bmp7 Exacerbates the Phenotype of Bmp8a Mutants in Spermatogenesis and Epididymis

By Zhao G-Q.   Chen Y-X.   Liu X-M.   Xu Z.   Qi X.  

Developmental Biology, Vol. 240, Iss. 1, 2001-12 ,pp. : 212-222

Academic Press

Access to resources Recommend Favorite

Single Tyrosine Mutation in AAV8 Vector Capsid Enhances Gene Lung Delivery and Does Not Alter Lung Morphofunction in Mice

By  

Cellular Physiology and Biochemistry, Vol. 34, Iss. 3, 2014-08 ,pp. : 681-690

Karger

Access to resources Recommend Favorite

Alström Syndrome: Mutation Spectrum of ALMS1

By  

HUMAN MUTATION, Vol. 36, Iss. 7, 2015-07 ,pp. : 660-668

John Wiley & Sons Inc

Access to resources Recommend Favorite