A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.

scientific article published in April 2004

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.JNS.2003.10.018
P698PubMed publication ID15050430

P50authorJosep GamezQ37372358
Gisela NogalesQ59877644
P2093author name stringAntonio L Andreu
Elena Garcia-Arumi
Carlos Cervera
P433issue1-2
P304page(s)1-6
P577publication date2004-04-01
P1433published inJournal of the Neurological SciencesQ6296168
P1476titleA novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance
P478volume219

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cites work (P2860)
Q40957607Accrued somatic mutations (nucleic acid changes) trigger ALS: 2005-2015 update
Q30444138Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
Q44160740Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
Q47673464G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype
Q33772493Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.
Q33356197Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival
Q41049208SOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stability
Q28263899The complex molecular biology of amyotrophic lateral sclerosis (ALS)

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