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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
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