Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement-Reference-Cited by-同舟云学术

Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

Published:2006-05-08 Issue:7 Volume:21 Page:1098-1105
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Pangrazio Alessandra,Poliani Pietro Luigi,Megarbane André,Lefranc Gérard,Lanino Edoardo,Di Rocco Maja,Rucci Francesca,Lucchini Franco,Ravanini Maria,Facchetti Fabio,Abinun Mario,Vezzoni Paolo,Villa Anna,Frattini Annalisa

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

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3. Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis;Taranta;Am J Pathol,2003

4. The mutational spectrum of human malignant autosomal recessive osteopetrosis;Sobacchi;Hum Mol Genet,2001

5. Defects in the TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis;Frattini;Nat Genet,2000

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