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nih.gov ) Mutations in BTD genecausingbiotinidase deficiency
Januario J.N. Mutations in BTD genecausingbiotinidase deficiency
Approximately 150 mutations in the BTD gene have been reportedto causebiotinidase deficiency
pathogenic variants in the BTD gene(passive) is caused byBiotinidase deficiency
mutations in the BTD gene ( 3p25 ) resulting in reduced or absent BTD activity(passive) is caused byBiotinidase deficiency
Transcobalamin deficiency More than 20 mutations in the TCN2 gene have been foundto causetranscobalamin deficiency
mutations in the NGLY1 gene knownto causeNGLY1 deficiency
mutations in the PA(passive) to be caused byPAI-1 deficiency
in which mutations are knownto causePlasminogen Deficiency
mutations in the gene encoding for CPSI(passive) is caused byCPSI deficiency
Williams M. Forty - eight novel mutationscausingbiotinidase deficiency
mutations in the ITPA gene(passive) caused byITPA deficiency
biallelic pathogenic variants in BTD(passive) is caused byBiotinidase deficiency
mutations in the NGLY1 gene that result in a loss of function(passive) Will ... is caused byNGLY1 deficiency
mutations in the genes HFE(passive) are caused byHepcidin deficiency
bi - allelic mutations(passive) is caused byIL-12Rβ1 deficiency
All types of mutations have been foundto causebiotinidase deficiency
transcobalamin deficiency - caused by mutations in the TCN2 gene More than 20 mutations in the TCN2 gene have been foundto causetranscobalamin deficiency
compound heterozygosity for two novel mutations in the TCN2 gene(passive) caused byTranscobalamin deficiency
Baldellou VA!zquez A. Analysis of mutationscausingbiotinidase deficiency
Hymes J. , , 2001 Mutations in BTDcausingbiotinidase deficiency
genetic mutations in the CYP17A1 gene(passive) is caused by20-lyase deficiency
mutations in the SERPINE1 gene and inheritance(passive) is caused byPAI1 deficiency
First contiguous gene deletioncausingbiotinidase deficiency
10.1002 / humu.21303.Analysis of mutationscausingbiotinidase deficiency
2 Novel TCN2 Mutations(passive) caused bytranscobalamin deficiency
mutations in the SLC25A20 gene ( 3p21.31(passive) is caused byCACT deficiency
more than 140 pathogenic variantscausingPYGM deficiency
Reference GRCh37.p13 Primary Assembly Forty - eight novel mutationscausingbiotinidase deficiency
Home ReferenceBTD Gene - Genetics Home Reference Analysis of mutationscausingbiotinidase deficiency
ReferencesPindolia K , Jordan M , Wolf B. Analysis of mutationscausingbiotinidase deficiency
Pindolia K , Jordan M , Wolf B. Analysis of mutationscausingbiotinidase deficiency
Pindolia , K , Jordon , M , Wolf , B. “ Analysis of mutationscausingbiotinidase deficiency
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Brief Summary Canavan disease(passive) is caused byBrief Summary Canavan disease
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http://clinicaltrials.gov/show/NCT00657748 Canavan disease(passive) is caused byhttp://clinicaltrials.gov/show/NCT00657748 Canavan disease
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