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Homozygous state for a new single bp‐deletion (g.787delA) in exon 5 of the glucose‐6‐phosphatase gene in a patient with early onset of glycogen storage disease type 1a
Author(s) -
Linnebank M.,
Rapp B.,
Homberger A.,
Winter C.,
Marquardt T.,
Künzel U.,
Koch H.G.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<414::aid-humu18>3.0.co;2-2
Subject(s) - genetics , biology