Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
NM_000308:exon6:c.649delC:p.L217fs Truncation of >75 \% of the protein sequence. Known cause of NIHF (lethal non-immune hydrops fetalis) in severe cases
| Title : Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families - Shamseldin_2015_Genome.Biol_16_116 |
| Author(s) : Shamseldin HE , Tulbah M , Kurdi W , Nemer M , Alsahan N , Al Mardawi E , Khalifa O , Hashem A , Kurdi A , Babay Z , Bubshait DK , Ibrahim N , Abdulwahab F , Rahbeeni Z , Hashem M , Alkuraya FS |
| Ref : Genome Biol , 16 :116 , 2015 |
| Abstract : |
| PubMedSearch : Shamseldin_2015_Genome.Biol_16_116 |
| PubMedID: 26036949 |
| Gene_locus related to this paper: human-CTSA |