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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 03/2016, Volume 171, Issue 2, pp. 290 - 299
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2010, Volume 31, Issue 10, pp. 1117 - 1124
Journal Article
Journal of Molecular Diagnostics, ISSN 1525-1578, 05/2018, Volume 20, Issue 3, pp. 289 - 297
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG) repeat expansion in coding sequences, are the most prevalent autosomal dominant... 
DOMINANT CEREBELLAR ATAXIAS | LARGE PATHOGENIC EXPANSIONS | CAG REPEAT EXPANSIONS | CHAIN-REACTION ASSAY | INFANTILE PHENOTYPE | FAMILIES | FREQUENCY | DISEASE | 7 SCA7 | PATHOLOGY | CLINICAL CORRELATIONS
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2010, Volume 31, Issue 10, pp. 1117 - 1124
Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the... 
COMPLEX | SCA28 | MITOCHONDRIA | CHAPERONE-LIKE ACTIVITY | autosomal dominant cerebellar ataxia | AFG3L2 | GENE | EXONIC SPLICING ENHANCERS | SPASTIC PARAPLEGIA | GENETICS & HEREDITY | spinocerebellar ataxia | SLOW PROGRESSION | AAA PROTEASE | Mitochondria | Missense mutation | Exons | Proteolysis | Cerebellar ataxia | Proteinase | Point mutation | Amino acids | Bioinformatics | Amino acid substitution
Journal Article
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 05/2018, Volume 20, Issue 3, pp. 289 - 297
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG) repeat expansion in coding sequences, are the most prevalent autosomal dominant... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2009, Volume 149A, Issue 4, pp. 770 - 775
Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in... 
hypoparathyroidism | GATA3 | HDR syndrome | deafness | gene | renal anomalies
Journal Article