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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 1, 2023. (Total: 221588Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Huntington Disease and JPH3[original query]
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
Journal of human genetics 2006 51 (8): 645-51.
Costa Maria do Carmo, Teixeira-Castro Andreia, Constante Marco, Magalhães Marina, Magalhães Paula, Cerqueira Joana, Vale José, Passão Vitorina, Barbosa Célia, Robalo Conceição, Coutinho Paula, Barros José, Santos Manuela M, Sequeiros Jorge, Maciel Patríc
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 Oct 168 (7): 573-85.
Krause Amanda, Mitchell Claire, Essop Fahmida, Tager Susan, Temlett James, Stevanin Giovanni, Ross Christopher, Rudnicki Dobrila, Margolis Russe
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