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Items: 1 to 20 of 166

1.

Characterization of a splicing mutation in group A xeroderma pigmentosum.

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y.

Proc Natl Acad Sci U S A. 1990 Dec;87(24):9908-12.

2.

Three nonsense mutations responsible for group A xeroderma pigmentosum.

Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y.

Mutat Res. 1992 Mar;273(2):193-202.

PMID:
1372102
4.
6.

[Neurological manifestations and molecular basis of group A xeroderma pigmentosum].

Mimaki T, Tanaka K, Nagai A, Mino M.

Nihon Rinsho. 1993 Sep;51(9):2488-93. Review. Japanese.

PMID:
8105118
7.

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.

Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S.

Arch Dermatol. 1994 Feb;130(2):191-7.

PMID:
7905727
8.

Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.

Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K.

Br J Dermatol. 1994 Oct;131(4):566-70.

PMID:
7947212
9.
10.

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G.

Hum Genet. 1998 Oct;103(4):462-9.

PMID:
9856491
11.
12.

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC.

Hum Mol Genet. 1994 Oct;3(10):1783-8.

PMID:
7849702
13.

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.

Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH.

Cell. 1990 Aug 24;62(4):777-91.

PMID:
2167179
16.

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.

J Hum Genet. 1998;43(2):91-100.

PMID:
9621512
17.

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.

Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U.

Hum Mutat. 1992;1(1):24-32.

PMID:
1284474
18.

Molecular analysis of human acatalasemia. Identification of a splicing mutation.

Wen JK, Osumi T, Hashimoto T, Ogata M.

J Mol Biol. 1990 Jan 20;211(2):383-93.

PMID:
2308162
19.
20.

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