LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE

Autor: BURGHES, AHM, INGRAHAM, SE, KOTEJARAI, Z, ROSENFELD, S, HERTA, N, NADKARNI, N, DIDONATO, CJ, CARPTEN, J, HURKO, O, FLORENCE, J, MOXLEY, RT, COBBEN, JM, MENDELL, [No Value]

Publikováno v: HUMAN GENETICS, 93(3), 305-312. SPRINGER

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::695213459f082402a4918c97583fac78
https://research.rug.nl/en/publications/64f6a09a-5dff-403d-8b36-7e0a126d5af8

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Calciphylaxis in a pediatric patient with multisystem inflammatory syndrome.

Autor: Distel HL; Kapiolani Medical Center for Women and Children, Honolulu, Hawaii; and John A. Burns School of Medicine, University of Hawaii at Manoa, Hawaii., Purohit PJ; Kapiolani Medical Center for Women and Children, Honolulu, Hawaii; and John A. Burns School of Medicine, University of Hawaii at Manoa, Hawaii., Ingraham SE; Kapiolani Medical Center for Women and Children, Honolulu, Hawaii; and John A. Burns School of Medicine, University of Hawaii at Manoa, Hawaii., Feng AK; Kapiolani Medical Center for Women and Children, Honolulu, Hawaii; and John A. Burns School of Medicine, University of Hawaii at Manoa, Hawaii.

Publikováno v: JAAD case reports [JAAD Case Rep] 2023 Mar 18; Vol. 35, pp. 80-83. Date of Electronic Publication: 2023 Mar 18 (Print Publication: 2023).