Homocystinuria: a family with peculiar genetic transmission.
Article
in English
| IMSEAR
| ID: sea-92777
ABSTRACT
Homocystinurias are a relatively rare group of seven distinct genetic disorders of amino acid metabolism characterised by increased concentration of sulphur containing amino acid homocysteine in the blood and urine. Its transmission is believed to be autosomal recessive. We reported a family with four females siblings spared and three male siblings affected. This case is reported because of its rarity and peculiar genetic transmission.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Female
/
Humans
/
Male
/
Child
/
Genes, Recessive
/
Homocystinuria
/
India
Country/Region as subject:
Asia
Language:
English
Year:
1993
Type:
Article
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