Search results
Results from the WOW.Com Content Network
208211 Ensembl ENSG00000033011 ENSMUSG00000039427 UniProt Q9BT22 Q921Q3 RefSeq (mRNA) NM_019109 NM_001330504 NM_145362 RefSeq (protein) NP_001317433 NP_061982 NP_663337 Location (UCSC) Chr 16: 5.03 – 5.09 Mb Chr 16: 5.05 – 5.06 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure ...
A missense mutation is a point mutation that changes one nucleotide, which results in a codon that codes for the wrong amino acid. Alagille syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
20714 Ensembl ENSG00000196136 ENSMUSG00000058207 UniProt P01011 P07759 RefSeq (mRNA) NM_001085 NM_011458 RefSeq (protein) NP_001076 NP_035588 Location (UCSC) Chr 14: 94.61 – 94.62 Mb Chr 12: 104.3 – 104.31 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alpha 1-antichymotrypsin (symbol α 1 AC, A1AC, or a1ACT) is an alpha globulin glycoprotein that is a member of the serpin ...
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
The ICD-10-CM and ICD-10-PCS were developed by the Centers for Medicare and Medicaid Services (CMS) and the National Center for Health Statistics (NCHS). [ 48 ] [ 49 ] There are over 70,000 ICD-10-PCS procedure codes and over 69,000 ICD-10-CM diagnosis codes, compared to about 3,800 procedure codes and roughly 14,000 diagnosis codes found in ...
glucosyltransferase I deficiency causes ALG6-CDG (CDG-Ic) [22] glucosyltransferase II deficiency causes ALG8-CDG (CDG-Ih). [23] Glc3Man9GlcNAc2-PP-Dol A protein with hitherto unknown activity, MPDU-1, is required for the efficient presentation of Dol-P-Man and Dol-P-Glc. Its deficiency causes MPDU1-CDG (CDG-If). [24]
The Centers for Medicare & Medicaid Services issued new guidance that says Medicare Part D drug benefit plans — which are offered through private insurers — could cover anti-obesity drugs that ...
Autoimmune autonomic ganglionopathy is a type of immune-mediated autonomic failure that is associated with antibodies against the ganglionic nicotinic acetylcholine receptor present in sympathetic, parasympathetic, and enteric ganglia.