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Items: 16

1.

Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.

Di Ferrante N, Ginsberg LC, Donnelly PV, Di Ferrante DT, Caskey CT.

Science. 1978 Jan 6;199(4324):79-81.

PMID:
17569489
2.
3.

Mild manifestations of the Morquio syndrome.

Hecht JT, Scott CI Jr, Smith TK, Williams JC.

Am J Med Genet. 1984 Jun;18(2):369-71. No abstract available.

PMID:
6431819
4.

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.

Fujimoto A, Horwitz AL.

Am J Med Genet. 1983 Jun;15(2):265-73.

PMID:
6224421
5.

Dideoxy sequencing method using denatured plasmid templates.

Hattori M, Sakaki Y.

Anal Biochem. 1986 Feb 1;152(2):232-8.

PMID:
3516005
6.

Heterogeneity of Morquio disease.

Beck M, Glössl J, Grubisic A, Spranger J.

Clin Genet. 1986 Apr;29(4):325-31.

PMID:
3087664
7.

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N.

Science. 1985 Dec 20;230(4732):1350-4.

PMID:
2999980
8.

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.

Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919-23.

9.

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.

Canning S, Dryja TP.

Proc Natl Acad Sci U S A. 1989 Jul;86(13):5044-8.

10.
11.

Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

Haraguchi Y, Aparicio JM, Takiguchi M, Akaboshi I, Yoshino M, Mori M, Matsuda I.

J Clin Invest. 1990 Jul;86(1):347-50.

12.

N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.

Masue M, Sukegawa K, Orii T, Hashimoto T.

J Biochem. 1991 Dec;110(6):965-70.

13.

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al.

Biochem Biophys Res Commun. 1991 Dec 16;181(2):677-83.

PMID:
1755850
14.

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

Singh J, Di Ferrante N, Niebes P, Tavella D.

J Clin Invest. 1976 Apr;57(4):1036-40.

15.

The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases.

Horwitz AL, Dorfman A.

Biochem Biophys Res Commun. 1978 Feb 28;80(4):819-25. No abstract available.

PMID:
416825
16.

Empirical predictions of protein conformation.

Chou PY, Fasman GD.

Annu Rev Biochem. 1978;47:251-76. Review. No abstract available.

PMID:
354496

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