ISSN:
0265-9247
Schlagwort(e):
Life and Medical Sciences
;
Cell & Developmental Biology
Quelle:
Wiley InterScience Backfile Collection 1832-2000
Thema:
Biologie
,
Medizin
Notizen:
Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene-specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene-specific probe is not available, defects have been localized to chromosomal regions by family studies. Recently developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders.
Zusätzliches Material:
2 Ill.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1002/bies.950060602
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