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Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.

Abstract:

In classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3). Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA) at the same codon 380, but encoding a lysine instead of the usual arginine. Previous functional assays of these codon 380 amino acid substitutions demonstrated a lesser activation of receptor signalin...

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Publisher copy:
10.1002/ajmg.a.31556

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Journal:
American journal of medical genetics. Part A
Volume:
143
Issue:
4
Pages:
355-359
Publication date:
2007-02-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:fa0e28e4-7fc3-4ee0-9e4a-0f4c71cfe6ea
Source identifiers:
121252
Local pid:
pubs:121252

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