ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

Journal
Growth Hormone & IGF Research
ISSN
1096-6374
Date Issued
2019
Author(s)
Gonzalo Dominguez-Menéndez
Helena Poggi Mayorga
Mónica Arancibia
Alejandro Martinez-Aguayo
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85070492982
WoS ID
WOS:000504789100002
DOI
URL
URL Institutional Repository
Subjects
als-igf

; 

insulin-like growth factor i

; 

short stature

; 

delayed puberty

; 

growth hormone

; 

adolescent

; 

amyotrophic lateral sclerosis

; 

carrier proteins

; 

exons

; 

female

; 

glycoproteins

; 

humans

; 

male

; 

mutation, missense

; 

pedigree

; 

sequence deletion

; 

somatomedin binding protein 1

; 

somatomedin binding protein 3

; 

carrier protein

; 

glycoprotein

; 

insulin-like growth factor binding protein, acid labile subunit

; 

adolescent

; 

article

; 

biochemistry

; 

body height

; 

body mass

; 

case report

; 

clinical article

; 

computer model

; 

enzyme linked immunosorbent assay

; 

exon

; 

gene deletion

; 

genetic analysis

; 

genetic code

; 

genetic variability

; 

genotype

; 

human

; 

male

; 

mother

; 

nuclear magnetic resonance imaging

; 

physical examination

; 

prediction

; 

priority journal

; 

protein deficiency

; 

sanger sequencing

; 

short stature

; 

amyotrophic lateral sclerosis

; 

female

; 

genetics

; 

missense mutation

; 

pathology

; 

pedigree