Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Jean Mosser, Anne‐Marie Douar, Claude‐Olivier Sarde et al. · Nature · 1993 · 1.2K citations

Molecular Physiology, Signal Transduction, Abc Transporters +4

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Batsheva Kerem, Julian Zielenski, D. Markiewicz et al. · Proceedings of the National Academy of Sciences · 1990 · 424 citations · Full text

Cf Mutations, Genetics, Genetic Epidemiology +16

The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily.

K Kamijo, Shigeru Taketani, Sadaki Yokota et al. · Journal of Biological Chemistry · 1990 · 398 citations · Full text

Proteinlipid Interaction, Molecular Biology, Cellular Physiology +16

Detection of over 98% cystic fibrosis mutations in a Celtic population

Claude Férec, M.‐P. Audrézet, Bernard Mercier et al. · Nature Genetics · 1992 · 184 citations

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9