Title : An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.

Pub. Date : 1998 May

PMID : 9682215






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 These changes are within or in close proximity to a CCTG sequence and a poly(C) tract, both of which are shown in other systems to be mutation hotspots. Poly C chaperonin containing TCP1 subunit 3 Homo sapiens