Detalhe da pesquisa
1.
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Nat Genet
; 26(1): 71-5, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973252
2.
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nat Genet
; 29(2): 166-73, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11586298
3.
The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.
DNA Res
; 7(3): 233-5, 2000 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-10907856
4.
Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to chromosome 16 but is distinct from the lpd (lipid defect) locus.
Mamm Genome
; 12(2): 129-32, 2001 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11210182
5.
p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.
Proc Natl Acad Sci U S A
; 96(14): 7968-73, 1999 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-10393931
6.
cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).
Cytogenet Cell Genet
; 87(3-4): 191-4, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10702664
7.
Small GTPase Rac1: structure, localization, and expression of the human gene.
Biochem Biophys Res Commun
; 277(3): 741-51, 2000 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-11062023
8.
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.
Genomics
; 71(2): 200-13, 2001 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11161814