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Items: 1 to 20 of 143

1.
2.
3.

In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

Fraizer GC, Harrold TR, Hofker MH, Cox DW.

Am J Hum Genet. 1989 Jun;44(6):894-902.

4.

Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.

Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y.

Am J Hum Genet. 1990 Mar;46(3):602-12.

5.

Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K.

Am J Hum Genet. 1994 Dec;55(6):1113-21.

7.

Molecular basis of alpha-1-antitrypsin deficiency.

Brantly M, Nukiwa T, Crystal RG.

Am J Med. 1988 Jun 24;84(6A):13-31. Review.

PMID:
3289385
8.

The murine alpha(1)-proteinase inhibitor gene family: polymorphism, chromosomal location, and structure.

Barbour KW, Wei F, Brannan C, Flotte TR, Baumann H, Berger FG.

Genomics. 2002 Nov;80(5):515-22.

PMID:
12408969
9.

Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in brief no. 174. Online.

Jardi R, Rodriguez F, Miravitlles M, Vidal R, Cotrina M, Quer J, Pascual C, Weidinger S.

Hum Mutat. 1998;12(3):213.

PMID:
10651487
12.

Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton.

Fraizer GC, Siewertsen M, Harrold TR, Cox DW.

Hum Genet. 1989 Nov;83(4):377-82.

PMID:
2807278
13.

A naturally occurring nonpolymerogenic mutant of alpha 1-antitrypsin characterized by prolonged retention in the endoplasmic reticulum.

Lin L, Schmidt B, Teckman J, Perlmutter DH.

J Biol Chem. 2001 Sep 7;276(36):33893-8. Epub 2001 Jun 26.

14.

A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level.

Balbín M, Freije JP, Abrahamson M, Velasco G, Grubb A, López-Otín C.

Hum Genet. 1993 Feb;90(6):668-9.

PMID:
8444475
15.

Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.

Cürük MA, Dimovski AJ, Baysal E, Gu LH, Kutlar F, Molchanova TP, Webber BB, Altay C, Gürgey A, Huisman TH.

Am J Hematol. 1993 Dec;44(4):270-5.

PMID:
8237999
16.

Selection of mutations that increase alpha 1-antitrypsin gene expression in Escherichia coli.

Sutiphong J, Johansen H, Sathe G, Rosenberg GS, Shatzman A.

Mol Biol Med. 1987 Oct;4(5):307-22.

PMID:
3320676
17.

Characterization of the coding sequence of the normal M4 alpha 1-antitrypsin gene.

Okayama H, Holmes MD, Brantly ML, Crystal RG.

Biochem Biophys Res Commun. 1989 Aug 15;162(3):1560-70.

PMID:
2788414
18.

Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.

Traeger-Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis C, Bernini LF.

Hemoglobin. 1999 Nov;23(4):317-24.

PMID:
10569720
19.

Apolipoprotein E2(Arg158----Cys) frequency in a hyperlipidemic French-Canadian population of apolipoprotein E2/2 subjects. Determination by synthetic oligonucleotide probes.

Weisgraber KH, Newhouse YM, Taylor JM, Tuan B, Nestruck AC, Davignon J, Mahley RW.

Arteriosclerosis. 1989 Jan-Feb;9(1):50-7.

20.

Dominantly Inherited beta-Thalassemia.

Efremov GD.

Hemoglobin. 2007;31(2):193-207.

PMID:
17486503

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