Unknown

Dataset Information

0

First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene.

ABSTRACT:

SUBMITTER: Prashanth LK 

PROVIDER: S-EPMC6353501 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in <i>ATP13A2</i> Gene.

Prashanth L K LK   Murugan Sakthivel S   Kamath Vikram V   Gupta Ravi R   Jadav Rakesh R   Sreekantaswamy S S   Ramprasad Vedam L VL  

Movement disorders clinical practice 20150509 3

Similar Datasets

Unknown Phenotypic Variability in ATP13A2 Mutations: The First Report of SPG78 From India.
| S-EPMC12580734 | biostudies-literature
Unknown Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.
| S-EPMC3238109 | biostudies-literature
Unknown A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.
| S-EPMC4196791 | biostudies-literature
Unknown A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.
| S-EPMC7521239 | biostudies-literature
Unknown First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
| S-EPMC6131905 | biostudies-literature
Unknown Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the <i>SMAD4</i> gene.
| S-EPMC8193005 | biostudies-literature
Unknown Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
| S-EPMC5329763 | biostudies-literature
Unknown A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
| S-EPMC10404504 | biostudies-literature
Unknown Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
| S-EPMC5963187 | biostudies-literature
Unknown Case report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
| S-EPMC10965776 | biostudies-literature