recessively การใช้

• Deficiency is rare ( congenital proconvertin deficiency ) and inherits recessively.
• The genetic cause is unknown, but it is autosomal recessively U . S ..
• HFI is recessively inherited autosomal disorder.
• In most locations the deposit is deeply eroded and forms recessively weathered slopes covered with vegetation.
• It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome.
• It is mainly known to occur in akitas, where it is thought to be generally autosomal recessively inherited.
• With the most common forms having no racial prediliections, but other recessively inherited forms tend to impact specific ethnic groups.
• Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6, 300 births in this population.
• Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.
• The term PPS has also been used for two rare autosomal recessively inherited conditions : " Lethal PPS " and " PPS with Ectodermal Dysplasia ".
• Mutations in the FGD1 gene cause phenotypes associated with the X-linked recessively transmitted faciogential dysplasia ( FGDY ) also known as Aarskog-Scott syndrome, a human developmental disorder that can occur with neurologial problems.
• Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome ( MPS II ).
• Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome ( MPS II ).
• This was to make it easy for breeders who do not want Himalayan blood in their breeding lines to avoid individuals who, while not necessarily exhibiting the colorpoint pattern, may be carrying the point coloration gene recessively.
• Recessively-inherited mutations in " NTE " that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia ( SPG39 ), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis.
• A rearrangement in TNNT1 gene ( c . 574 _ 577 delins TAGTGCTGT ) leading to aberrant splicing that causes C-terminal truncation of the protein ( L203 truncation ) was reported in 9 Palestinian patients from 7 unrelated families with recessively inherited nemaline Myopathy.
• "' Carnitine palmitoyltransferase II deficiency "'( CPT-II ) is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
• NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C . Niemann-Pick disease, type C is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in either NPC1 or NPC2.