A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.

A) in the TSC2 gene. -->
Autoři: Kumar A; Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA., Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR
Zdroj: Human mutation [Hum Mutat] 1997; Vol. 9 (1), pp. 64-5.
Způsob vydávání: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
Jazyk: English
Informace o časopise: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Imprint Name(s): Original Publication: New York : Wiley-Liss, c1992-
Výrazy ze slovníku MeSH: Mutation* , RNA Splicing*, Repressor Proteins/*genetics , Tuberous Sclerosis/*genetics, Adult ; Humans ; Male ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins
Grant Information: P01-NS-26630-06 United States NS NINDS NIH HHS
Substance Nomenclature: 0 (Repressor Proteins)
0 (TSC2 protein, human)
0 (Tuberous Sclerosis Complex 2 Protein)
0 (Tumor Suppressor Proteins)
Entry Date(s): Date Created: 19970101 Date Completed: 19970319 Latest Revision: 20181130
Update Code: 20231215
DOI: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N
PMID: 8990012
Autor: Kumar A; Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA., Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR
Jazyk: angličtina
Zdroj: Human mutation [Hum Mutat] 1997; Vol. 9 (1), pp. 64-5.
DOI: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N
Databáze: MEDLINE
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