A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

By Marconi R.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 567-574

Oxford University Press

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

By Chitayat D.  

Human Molecular Genetics, Vol. 10, Iss. 17, 2001-08 ,pp. : 1767-1773

Oxford University Press

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

By Lefèvre Caroline  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2473-2482

Oxford University Press

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Localization of a Gene Responsible for Autosomal Recessive Demyelinating Neuropathy with Focally Folded Myelin Sheaths to Chromosome 11q23 by Homozygosity Mapping and Haplotype Sharing

By Bolino Alessandra  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1051-1054

Oxford University Press

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Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

By Meyer Jobst   Südbeck Peter   Held Marika   Wagner Thomas   Schmitz M. Lienhard   Dagna Bricarelli Franca   Eggermont Ephrem   Friedrich Ursula   Haas Oskar A.   Kobelt Albrecht   Leroy Jules G.   Van Maldergem Lionel   Michel Erik   Mitulla Beate   Pfeiffer Rudolf A.   Schinzel Albert   Schmidt Heinrich   Scherer Gerd  

Human Molecular Genetics, Vol. 6, Iss. 1, 1997-01 ,pp. : 91-98

Oxford University Press

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