scholarly journals Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

2018 ◽  
Vol 26 (10) ◽  
pp. 1554-1557 ◽  
Author(s):  
Laura Alías ◽  
Sara Bernal ◽  
Maite Calucho ◽  
Elisabeth Martínez ◽  
Francesca March ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Genetic Counselling ◽  
Muscular Atrophy ◽  
Carrier Diagnosis

scholarly journals Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis

2006 ◽  
Vol 8 (4) ◽  
pp. 259-262 ◽  
Author(s):  
María Jesús Barceló ◽  
Laura Alias ◽  
Lídia Caselles ◽  
Yolanda Robles ◽  
Montserrat Baiget ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Smn1 Gene ◽  
Carrier Diagnosis

scholarly journals De novo deletions in spinal muscular atrophy: implications for genetic counselling.

1997 ◽  
Vol 34 (1) ◽  
pp. 86-87 ◽  
Author(s):  
V Raclin ◽  
P S Veber ◽  
L Burglen ◽  
A Munnich ◽  
J Melki
Keyword(s):  
Spinal Muscular Atrophy ◽  
Genetic Counselling ◽  
De Novo ◽  
Muscular Atrophy
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