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Two novel mutations (10410 T→G; 10296 del C) at carboxy‐terminus of the dystrophin gene associated with mental retardation
Author(s) -
Cau Milena,
Cao Antonio,
Loi Daniela,
Puddu Alberto,
Muntoni Francesco,
Mateddu Anna,
Melis Maria Antonietta
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:1<70::aid-humu13>3.0.co;2-g
Subject(s) - biology , peripherin , retinitis pigmentosa , genetics , gene , mutation , macular dystrophy
In this study we have carried out a mutational screening of exons 62‐79 of the dystrophin gene by SSCP in 38 italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients. Hum Mutat 12:70, 1998. © 1998 Wiley‐Liss, Inc.