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Items: 1 to 20 of 130

1.

Premature chain termination mutation causing Duchenne muscular dystrophy.

Clemens PR, Ward PA, Caskey CT, Bulman DE, Fenwick RG.

Neurology. 1992 Sep;42(9):1775-82.

PMID:
1513469
2.

Point mutation in the human dystrophin gene: identification through western blot analysis.

Bulman DE, Gangopadhyay SB, Bebchuck KG, Worton RG, Ray PN.

Genomics. 1991 Jun;10(2):457-60.

PMID:
2071150
3.
4.

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

Roest PA, Bout M, van der Tuijn AC, Ginjaar IB, Bakker E, Hogervorst FB, van Ommen GJ, den Dunnen JT.

J Med Genet. 1996 Nov;33(11):935-9.

5.

Alternative dystrophin gene transcripts in golden retriever muscular dystrophy.

Schatzberg SJ, Anderson LV, Wilton SD, Kornegay JN, Mann CJ, Solomon GG, Sharp NJ.

Muscle Nerve. 1998 Aug;21(8):991-8.

PMID:
9655116
6.

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Wilton SD, Chandler DC, Kakulas BA, Laing NG.

Hum Mutat. 1994;3(2):133-40.

PMID:
8199594
7.

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.

Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M.

J Clin Invest. 1994 Sep;94(3):1037-42.

8.

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR.

Nat Genet. 1993 Aug;4(4):357-60.

PMID:
8401582
9.
10.

Southern blot and PCR analyses of dystrophin gene deletions in Japanese patients with Duchenne muscular dystrophy.

Nakajima T, Matsuo M, Nakamura H, Fujiwara Y.

Kobe J Med Sci. 1991 Feb;37(1):21-33.

PMID:
1921260
11.

A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein.

Sakuraba H, Hori S, Ohtani S, Hanaka S, Abe T, Shimmoto M, Suzuki Y.

Brain Dev. 1993 May-Jun;15(3):222-5.

PMID:
8214349
12.

A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

Helliwell TR, Ellis JM, Mountford RC, Appleton RE, Morris GE.

Am J Hum Genet. 1992 Mar;50(3):508-14.

13.

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis.

Ikezawa M, Minami N, Takahashi M, Goto Y, Miike T, Nonaka I.

Brain Dev. 1998 Apr;20(3):165-8.

PMID:
9628192
14.

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP.

Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA.

Hum Mol Genet. 1992 Oct;1(7):517-20.

PMID:
1307253
15.
16.
17.

A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.

Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M.

Proc Assoc Am Physicians. 1996 Jul;108(4):308-14.

PMID:
8863344
19.

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.

Hamed S, Sutherland-Smith A, Gorospe J, Kendrick-Jones J, Hoffman E.

Clin Genet. 2005 Jul;68(1):69-79.

PMID:
15952989
20.

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein.

Vainzof M, Zubrzycka-Gaarn EE, Rapaport D, Passos-Bueno MR, Pavanello RC, Pavanello-Filho I, Zatz M.

J Neurol Sci. 1991 Feb;101(2):141-7.

PMID:
1709683

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