Literature DB >> 9452087

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

G C Korenke1, E Krasemann, V Meier, W Beuche, D H Hunneman, F Hanefeld.   

Abstract

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Year:  1998        PMID： 9452087     DOI： 10.1002/humu.1380110166

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

Review 1.  X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Authors:  K D Smith; S Kemp; L T Braiterman; J F Lu; H M Wei; M Geraghty; G Stetten; J S Bergin; J Pevsner; P A Watkins
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Involvement of the carboxyl-terminal region of the yeast peroxisomal half ABC transporter Pxa2p in its interaction with Pxa1p and in transporter function.

Authors:  Cheng-Yi Chuang; Ling-Yun Chen; Ru-Huei Fu; Shih-Ming Chen; Ming-Hua Ho; Jie-Mau Huang; Chia-Chi Hsu; Chien-Cheng Wang; Meng-Shian Chen; Rong-Tzong Tsai
Journal:  PLoS One       Date:  2014-08-13       Impact factor: 3.240

3.  Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

Authors:  Bingzi Dong; Wenshan Lv; Lili Xu; Yuhang Zhao; Xiaofang Sun; Zhongchao Wang; Bingfei Cheng; Zhengju Fu; Yangang Wang
Journal:  Int J Endocrinol       Date:  2022-02-07       Impact factor: 2.803

4.  Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Authors:  Heidi Cope; Rebecca Spillmann; Jill A Rosenfeld; Elly Brokamp; Rebecca Signer; Kelly Schoch; Emily G Kelley; Jennifer A Sullivan; Ellen Macnamara; Sharyn Lincoln; Katie Golden-Grant; James P Orengo; Gary Clark; Lindsay C Burrage; Jennifer E Posey; Jaya Punetha; Amy Robertson; Joy Cogan; John A Phillips; Julian Martinez-Agosto; Vandana Shashi
Journal:  Mol Genet Genomic Med       Date:  2020-07-30       Impact factor: 2.183

5.  A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.

Authors:  Yu Zhang; Guoyong Zhang; Wenhui Chen; Zheng Pu; Lu Song; Xinghua Tang; Zhenguo Liu
Journal:  Genes Dis       Date:  2020-01-28
  5 in total

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