Open AccessLarge-scale population screening for spinal muscular atrophy: Clinical implications
Author(s) -
Shay BenShachar,
Avi OrrUrtreger,
Eyal Bardugo,
Ruth Shomrat,
Yuval Yaron
Publication year - 2011
Publication title -
genetics in medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1097/gim.0b013e3182017c05
Subject(s) - spinal muscular atrophy , smn1 , multiplex ligation dependent probe amplification , exon , population , carrier testing , atrophy , medicine , pathology , genetics , biology , prenatal diagnosis , disease , gene , fetus , pregnancy , environmental health
To determine the frequency of SMN1 deletion carriers in the Israeli population and to assess the feasibility of population screening for spinal muscular atrophy.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom