Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/S-South End

http://scdontology.h3abionet.org/ontology/SCDO_1000088

A compound heterozygous genotype, involving the mutations for hemoglobin S and hemoglobin S-South End.

Term info

curator note

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definition source

https://www.ncbi.nlm.nih.gov/pubmed/15543018

S/S-South End Genotype, Haemoglobin Genotype S/S-South End, beta Glu6Val, GAG>GTG/beta Glu6Val, GAG>GTG; beta Lys132Asn, AAA>AAC, beta6Glu>Val/beta132Lys>Asn