MMP13 Mutations are the Cause of Recessive Metaphyseal Dysplasia, Spahr Type

Autor: Luisa Bonafé, Russia Ha-Vinh, Ana Belinda Campos-Xavier, Xuanzhu Liu, Wei Wang, Jacques S. Beckmann, Jinlong Liang, André Spahr, Qingyan Zhang, Sheila Unger, Maria W. Górna, Andrea Superti-Furga, Giulio Superti-Furga, Antony Le Béchec, A. Giedion, Brian Stevenson

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
American Journal of Medical Genetics. Part A, 164(5), 1175-1179. Wiley-Liss Inc (2014).

Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c473df3319688d4325c2ba57e8076d

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

Autor: Isabel Boo, Sedano, Benno, Röthlisberger, Guy, Délèze, Cornelia, Ottiger, Marc-Alain, Panchard, André, Spahr, Martin, Hergersberg, Willi, Bürgi, Andreas, Huber

Publikováno v: British journal of haematology. 127(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::615c7fd96601568766006207593ca33f
https://pubmed.ncbi.nlm.nih.gov/15491302

Buchbesprechungen

Autor: André Spahr, Pierre-André Michaud, John-Paul Vader

Publikováno v: Sozial- und Präventivmedizin SPM. 34:44-46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c7c3c95ed4d19fd83f78aa2ad64118f
https://doi.org/10.1007/bf02084753