Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome

<div>(a) Chromatogram of wild-type allele. (b) Chromatogram of heterozygous carrier parents. (c) Chromatogram of homozygous affected. (d) Multiple sequence alignment for human BBS2. Conservation of amino acid N among various ortholog species.</div>

BioMed Research International

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Figure 3

Figure 3: Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome 

BioMed Research International

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Figure 3