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Items: 1 to 20 of 126

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Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting.

[No authors listed]

Bull World Health Organ. 1997;75(5):397-415. Review.

4.

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.

Chappell S, Guetta-Baranés T, Batowski K, Yiannakis E, Morgan K, O'Connor C, MacNee W, Kalsheker N.

Hum Mutat. 2004 Dec;24(6):535-6.

PMID:
15532029
5.

Molecular analysis of the Pi*Z allele in patients with liver disease.

Lima LC, Matte U, Leistner S, Bopp AR, Scholl VC, Giugliani R, da Silveira TR.

Am J Med Genet. 2001 Dec 15;104(4):287-90.

PMID:
11754061
6.

The diagnostic value of alpha 1-antitrypsin globules in liver cells as a morphological marker of alpha 1-antitrypsin deficiency.

Clausen PP, Lindskov J, Gad I, Kreutzfeldt M, Orholm M, Reinicke V, Larsen HR, Strøm P.

Liver. 1984 Dec;4(6):353-9.

PMID:
6394943
7.

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.

Curiel DT, Vogelmeier C, Hubbard RC, Stier LE, Crystal RG.

Mol Cell Biol. 1990 Jan;10(1):47-56.

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DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene.

Cox DW, Billingsley GD, Mansfield T.

Am J Hum Genet. 1987 Nov;41(5):891-906.

11.
13.

Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus.

Whitehouse DB, Abbott CM, Lovegrove JU, McIntosh I, McMahon CJ, Mieli-Vergani G, Mowat AP, Hopkinson DA.

J Med Genet. 1989 Dec;26(12):744-9.

14.

Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).

Poller W, Merklein F, Schneider-Rasp S, Haack A, Fechner H, Wang H, Anagnostopoulos I, Weidinger S.

Eur J Hum Genet. 1999 Apr;7(3):321-31.

15.

Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.

Curiel DT, Holmes MD, Okayama H, Brantly ML, Vogelmeier C, Travis WD, Stier LE, Perks WH, Crystal RG.

J Biol Chem. 1989 Aug 15;264(23):13938-45.

16.

Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.

Weidinger S, Jahn W, Cujnik F, Schwarzfischer F.

Hum Genet. 1985;71(1):27-9.

PMID:
3875547
17.

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease.

De Tommaso AM, Rossi CL, Escanhoela CA, Serra HG, Bertuzzo CS, Hessel G.

Arq Gastroenterol. 2001 Jan-Mar;38(1):63-8. Epub 2001 Dec 5.

18.

Alpha 1-antitrypsin deficiency.

Ellett ML.

Gastroenterol Nurs. 1991 Dec;14(3):138-41.

PMID:
1760450
19.

Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis.

Ambrose HJ, Chambers SM, Mieli-Vergani G, Ferrie R, Newton CR, Robertson NH.

Diagn Mol Pathol. 1999 Dec;8(4):205-10.

PMID:
10617277
20.

Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens.

Rodriguez F, Jardí R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M.

Am J Respir Crit Care Med. 2002 Sep 15;166(6):814-7.

PMID:
12231490

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