Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi et al. · Nature Genetics · 2000 · 676 citations

Life Sciences, Genetics, Molecular Genetics +6

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Uwe Kornak · Human Molecular Genetics · 2000 · 350 citations · Full text

Medicine, Genetics, Molecular Biology +15

The mutational spectrum of human malignant autosomal recessive osteopetrosis

Cristina Sobacchi · Human Molecular Genetics · 2001 · 227 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Missense mutations in transmembrane domains of proteins: Phenotypic propensity of polar residues for human disease

Anthony W. Partridge, Alex G. Therien, Charles M. Deber · Proteins Structure Function and Bioinformatics · 2004 · 107 citations

Life Sciences, Genetics, Molecular Biology +15

Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis

Anna Taranta, Silvia Migliaccio, Irene Recchia et al. · American Journal Of Pathology · 2003 · 105 citations

Medicine, Genetics, Molecular Genetics +13