✦ LIBER ✦

G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

✍ Scribed by L. González-Quereda; H. Gómez; A. Cabello; N. De Luna; E. Gallardo; M. Rodriguez; J. Juan; M. Baiget; P. Gallano

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotype of three consanguineous Tunisi

✍ Leila El Matri; Aude Ambresin; Daniel F. Schorderet; Aki Kawasaki; Mathias W. Se 📂 Article 📅 2006 🏛 Springer-Verlag 🌐 English ⚖ 284 KB

Founder effect for the Ala431Glu mutatio

✍ Petra Yescas; Adriana Huertas-Vazquez; María Teresa Villarreal-Molina; Astrid Ra 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 121 KB

Identification of Spanish familial Parki

✍ Esteban Muñoz; Rafael Oliva; Victor Obach; Marı́a J Martı́; Pau Pastor; Francisc 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 125 KB

Adrenocorticotrope Deficiency with Clini

✍ C. Lamesch; S. Neumann; R. Pfäffle; W. Kiess; R. Paschke 📂 Article 📅 2002 🏛 Springer US 🌐 English ⚖ 253 KB

2.P.366 High prevalence of homozigosity

✍ F.P. Mancini; A.M. Cerbone; P. Madonna; A. Pagano; R. Albisinni; G. Mazzola; I. 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 152 KB

Homozygous state for a new single bp-del

✍ M. Linnebank; B. Rapp; A. Homberger; C. Winter; T. Marquardt; U. Künzel; H.G. Ko 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views