A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy-Reference-Cited by-同舟云学术

A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

Published:1994-09 Issue:3 Volume:39 Page:345-351
ISSN:0021-5074
Container-title:Japanese journal of human genetics
language:en
Short-container-title:Jap J Human Genet

Author:

Matsumoto Tadashi,Kondoh Tatsuro,Masuzaki Hideaki,Harada Naoki,Matsusaka Tetsuo,Kinoshita Ei-ichi,Takeo Goh,Tsujihata Mitsuhiro,Suzuki Yasuyuki,Tsuji Yoshiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/jhg199425.pdf

Reference11 articles.

1. Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr (1990): A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature346: 366–369

2. Gartner J, Moser H, Valle D (1992): Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet1: 16–23

3. Human Gene Mapping 11. London Conference (1991): Cytogenet Cell Genet58: 1663–1696

4. Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T (1992): Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. Biochim Biophys Acta1129: 323–327

5. Kinoshita E, Matsumoto T, Kondoh T, Yoshimoto M, Niikawa N, Tsuji Y (1991): Deletion pattern in the 21-hydroxylase gene detected by polymerase chain reaction. Acta Pediatr Jpn33: 1–5

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1. Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy;Journal of Human Genetics;2003-03

2. Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation;Journal of the Neurological Sciences;2000-08

3. Mutational Analysis of X-Linked Adrenoleukodystrophy Gene;Cell Biochemistry and Biophysics;2000

4. Mutational Analysis and Genotype-Phenotype Correlation of 29 Unrelated Japanese Patients With X-linked Adrenoleukodystrophy;Archives of Neurology;1999-03-01

5. X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes;Neurochemical Research;1999